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Professor Tim Frayling

Professor of Human Genetics

2935

+44 (0) 01392 722935

RILD Building 

Prof. Frayling has been working as a molecular geneticist for seventeen years, the majority of that time with common human traits and diseases, particularly type 2 diabetes and related conditions. He obtained a personal chair as Professor of Human Genetics in 2007 and head a team of 12 that has become internationally recognized as a world leader in the genetics of common traits and conditions. Outstanding contributions include the first robustly associated loci that influence adiposity (FTO, Science 2007) height (HMGA2, Nature Genetics 2007, Nature 2010) and birth weight (ADCY5, CDKAL1, Nature Genetics 2010) in the general population.

His training began as a Clinical Grade A trainee molecular geneticist in the Churchill Hospital, Oxford, where he learnt the basics of human genetics including linkage analyses in Duchenne Muscular Dystrophy and Bayesian statistics in Cystic fibrosis risk calculations. He began his research career in 1996 in Exeter in the field of monogenic forms of diabetes. His work, as a PhD student with Prof Andrew Hattersley, played a key role in the characterization of the genes for maturity onset diabetes of the young. Key work prior to the genome wide association studies includes some of the first use of meta-analyses and multiple replication studies to determine the role of common variants in disease. These include the assessment of common variants in the KCNJ11 (E23K variant, Diabetes 2003) gene in type 2 diabetes risk and the identification of the first robust associations between common variants and birth weight (TCF7L2 and Glucokinase, AJHG 2006 & 2007).

Broad research specialisms

He and his colleagues focus on using genome wide approaches to identify genetic variation associated with common human disease and quantitative phenotypes and translating that knowledge into an improved understanding of disease biology.

They are members of several large collaborations that are continuing to identify more variants in the human genome that influence important human traits. They are translating these genetic associations into an improved understanding of the biological basis of disease and normal physiology. Examples include Mendelian Randomization studies that provide evidence for a role of sex-hormones in type 2 diabetes and links between fetal growth and type 2 diabetes.

Qualifications

  • PhD

Research

Research interests

Prof. Frayling gives an overview of research carried out by his interdisciplinary team at RILD (the Research, Innovation, Learning and Development Centre) in the video below, filmed at the Living Systems Institute Symposium 2016.  

Research projects

Grants/Funding

  • European Research Council Advanced Award. 2013-2018. Euros 2.0 million. Understanding the causes of hyperglycaemia in the face of rising obesity.
  • DiabetesUK 1st September 2012 – 31st August 2015. Using human genetics to understand the role of adiponectin in type 2 diabetes and insulin resistance. £139,000. PI.
  • EU FP7. February 2012-2016. Genomic and Lifestyle predictors of foetal outcome relevant to diabetes and obesity and their relevance to prevention strategies in South Asian peoples. “GIFTS”. Work package leader. E110,00 to Exeter
  • Diabetes UK 2011-2014 (awarded December 2010) Studentship. The role of sex hormones in type 2 diabetes. September 2010-August 2013.
  • Wellcome Trust June 2010 – May 2014. Henry Wellcome Postdoctoral research fellowship, Sponsor to John Perry. Using next generation sequencing technology to identify rare genetic variants in type 2 diabetes. £250,000.
  • EU Marie Curie programme Sept 2010 – Sept 2013. “Biology of Liver and Pancreas Development” (BOLD). Supervisor of one Early Stage Researcher
  • EPSRC. 1 October 2011 - 31 March 2013 Ant Colony Optimisation for the Discovery of Gene-Gene Interactions in Genome-Wide Association Studies. £99,212. Co-applicant.
  • Wellcome Trust October 2009-2012. Next generation disease association analysis: low pass sequencing and high density SNP genotyping for type 2 diabetes. (with Mark McCarthy, Peter Donnelly, Gil McVean, Andrew Hattersley, Mark Daly, Goncalo Abecasis, Michael Boehnke, Karen Molke, David Altshuler, Leif Groop). £156,000 to Exeter.
  • NIDDK October 2009 - 2012. Identifying variants causal for Type 2 Diabetes in major human populations (with Mark McCarthy, Andrew Hattersley, 20 others). $56,000 to Exeter.
  • Wellcome Trust 2010. The Wellcome Wolfson Centre for Translational Medicine. £6million from the Wellcome Trust. I was one of 12 principle investigators, and one of 3 who wrote the successful bid for this new building.

Key publications | Publications by category | Publications by year

Key publications


Perry JRB, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, et al (2010). Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet, 19(3), 535-544. Abstract.  Author URL.
Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, et al (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet, 42(5), 430-435. Abstract.  Author URL.
Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT (2009). A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet, 18(15), 2922-2927. Abstract.  Author URL.
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, et al (2009). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet, 41(1), 25-34. Abstract.  Author URL.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, et al (2009). Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes, 58(6), 1428-1433. Abstract.  Author URL.
Melzer D, Perry JRB, Hernandez D, Corsi A-M, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, et al (2008). A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet, 4(5). Abstract.  Author URL.  Full text.

Publications by category


Journal articles

Jones SE, Tyrrell J, Wood AR, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Hu Y, Teder-Laving M, Hayward C, et al (In Press). Genome-wide association analyses in 128,266 individuals identifies new morningness and sleep duration loci. PLoS Genetics Full text.
Frayling TM, Tyrrell J (In Press). Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. British Medical Journal Full text.
Scott RA, Freitag DF, Li L, Chu AY, Surendran P, Young R, Grarup N, Stancáková A, Chen Y, Varga TV, et al (2016). A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Sci Transl Med, 8(341). Abstract.  Author URL.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, et al (2016). A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet, 48(10), 1279-1283. Abstract.  Author URL.  Full text.
Frayling TM, Tyrrell J (2016). Authors' reply to Toth. BMJ, 353 Author URL.
Pitt A, Knight BA, Hudson M, Beall L, Hattersley AT, Jones AG, Frayling TM (2016). Evaluating the Exeter Glucose Potentiated Arginine Insulin Secretion (E-GPAIS) test for recruit by genotype studies. DIABETIC MEDICINE, 33, 29-29. Author URL.
Lee BP, Lloyd-Laney HO, Locke JM, McCulloch LJ, Knight B, Yaghootkar H, Cory G, Kos K, Frayling TM, Harries LW, et al (2016). Functional characterisation of ADIPOQ variants using individuals recruited by genotype. Mol Cell Endocrinol, 428, 49-57. Abstract.  Author URL.
Tyrrell J, Richmond RC, Palmer TM, Feenstra B, Rangarajan J, Metrustry S, Cavadino A, Paternoster L, Armstrong LL, De Silva NMG, et al (2016). Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. JAMA, 315(11), 1129-1129. Full text.
Yaghootkar H, Lotta LA, Tyrrell J, Smit RAJ, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, et al (2016). Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease. Diabetes, 65(8), 2448-2460. Abstract.  Author URL.  Full text.
Ruth KS, Beaumont RN, Tyrrell J, Jones SE, Tuke MA, Yaghootkar H, Wood AR, Freathy RM, Weedon MN, Frayling TM, et al (2016). Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health. Hum Reprod, 31(2), 473-481. Abstract.  Author URL.  Full text.
Kilpeläinen TO, Carli JFM, Skowronski AA, Sun Q, Kriebel J, Feitosa MF, Hedman ÅK, Drong AW, Hayes JE, Zhao J, et al (2016). Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels. Nat Commun, 7 Abstract.  Author URL.
Frayling TM, Tyrrell J (2016). HEIGHT, BODY MASS INDEX, AND SOCIOECONOMIC STATUS Conclusions of study on height, body mass index, and socioeconomic status have an uncertain basis Reply. BMJ-BRITISH MEDICAL JOURNAL, 353 Author URL.  Full text.
Pilling LC, Atkins JL, Bowman K, Jones SE, Tyrrell J, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Wood AR, et al (2016). Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. Aging (Albany NY), 8(3), 547-560. Abstract.  Author URL.
Scelo G, Hofmann JN, Banks RE, Bigot P, Bhatt RS, Cancel-Tassin G, Chew SK, Creighton CJ, Cussenot O, Davis IJ, et al (2016). International cancer seminars: a focus on kidney cancer. Ann Oncol, 27(8), 1382-1385. Abstract.  Author URL.
Lessard S, Manning AK, Low-Kam C, Auer PL, Giri A, Graff M, Schurmann C, Yaghootkar H, Luan J, Esko T, et al (2016). Testing the role of predicted gene knockouts in human anthropometric trait variation. Hum Mol Genet, 25(10), 2082-2092. Abstract.  Author URL.
Wood AR, Tyrrell J, Beaumont R, Jones SE, Tuke MA, Ruth KS, GIANT consortium, Yaghootkar H, Freathy RM, Murray A, et al (2016). Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively. Diabetologia, 59(6), 1214-1221. Abstract.  Author URL.  Full text.
van der Valk RJP, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, et al (2015). A novel common variant in DCST2 is associated with length in early life and height in adulthood. Hum Mol Genet, 24(4), 1155-1168. Abstract.  Author URL.
Sapin E, Keedwell E, Frayling T (2015). An Ant Colony Optimization and Tabu List Approach to the Detection of Gene-Gene Interactions in Genome-Wide Association Studies [Research Frontier]. IEEE Computational Intelligence Magazine, 10(4). Abstract.  Full text.
Sapin E, Frayling T, Keedwell EC (2015). Ant colony optimisation of decision tree and contingency table models for the discovery of gene–gene interactions. IET Systems Biology
Yaghootkar H, Stancáková A, Freathy RM, Vangipurapu J, Weedon MN, Xie W, Wood AR, Ferrannini E, Mari A, Ring SM, et al (2015). Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion. Diabetes, 64(6), 2279-2285. Abstract.  Author URL.  Full text.
Pers TH, Karjalainen JM, Chan Y, Westra H-J, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, et al (2015). Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun, 6 Abstract.  Author URL.
Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, et al (2015). Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals. Hum Mol Genet, 24(12), 3582-3594. Abstract.  Author URL.
Moore AZ, Ding J, Tuke MA, Wood A, Melzer D, Bandinelli S, Frayling T, Ferrucci L (2015). DISTRIBUTION OF MITOCHONDRIAL DNA HETEROPLASMY IN PARTICIPANTS OF THE INCHIANTI STUDY. GERONTOLOGIST, 55, 67-67. Author URL.
Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, et al (2015). Directional dominance on stature and cognition in diverse human populations. Nature, 523(7561), 459-462. Abstract.  Author URL.
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, Rayner NW, Robertson N, et al (2015). Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics, 47(12), 1415-1425. Abstract.
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, Rayner NW, Robertson N, et al (2015). Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet, 47(12), 1415-1425. Abstract.  Author URL.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, et al (2015). Genetic studies of body mass index yield new insights for obesity biology. Nature, 518(7538), 197-206. Abstract.  Author URL.  Full text.
Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, Locke AE, Grarup N, Im HK, Cingolani P, et al (2015). Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus. PLoS Genetics, 11(1). Abstract.
Knowles JW, Xie W, Zhang Z, Chennemsetty I, Assimes TL, Paananen J, Hansson O, Pankow J, Goodarzi MO, Carcamo-Orive I, et al (2015). Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. Journal of Clinical Investigation, 125(4), 1739-1751. Abstract.  Full text.
Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert M-F, Raghavan S, Lipovich L, et al (2015). Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun, 6 Abstract.  Author URL.  Full text.
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, et al (2015). New genetic loci link adipose and insulin biology to body fat distribution. Nature, 518(7538), 187-196. Abstract.  Author URL.  Full text.
Robinson MR, Hemani G, Medina-Gomez C, Mezzavilla M, Esko T, Shakhbazov K, Powell JE, Vinkhuyzen A, Berndt SI, Gustafsson S, et al (2015). Population genetic differentiation of height and body mass index across Europe. Nature Genetics, 47(11), 1357-1361. Abstract.
Robinson MR, Hemani G, Medina-Gomez C, Mezzavilla M, Esko T, Shakhbazov K, Powell JE, Vinkhuyzen A, Berndt SI, Gustafsson S, et al (2015). Population genetic differentiation of height and body mass index across Europe. Nature Genetics Abstract.
Frayling TM (2015). Statins and type 2 diabetes: genetic studies on target. Lancet, 385(9965), 310-312. Author URL.  Full text.
Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, et al (2015). Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nature Genetics, 47(8), 921-925. Abstract.
Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, et al (2015). Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nat Genet, 47(8), 921-925. Abstract.  Author URL.
Boquete Vilariño L, Frayling TM (2015). The Hunt for Low-Frequency Alleles Predisposing to Type 2 Diabetes and Related Cardiovascular Risk Factors. Current Cardiovascular Risk Reports, 9(11). Abstract.
Fall T, Xie W, Poon W, Yaghootkar H, Mägi R, GENESIS Consortium, Knowles JW, Lyssenko V, Weedon M, Frayling TM, et al (2015). Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes. Diabetes, 64(7), 2676-2684. Abstract.  Author URL.  Full text.
Wood AR, Tuke MA, Nalls M, Hernandez D, Gibbs JR, Lin H, Xu CS, Li Q, Shen J, Jun G, et al (2015). Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. Hum Mol Genet, 24(5), 1504-1512. Abstract.  Author URL.  Full text.
Prokopenko I, Poon W, Mägi R, Prasad B R, Salehi SA, Almgren P, Osmark P, Bouatia-Naji N, Wierup N, Fall T, et al (2014). A central role for GRB10 in regulation of islet function in man. PLoS Genet, 10(4). Abstract.  Author URL.
Ghanbari M, de Vries PS, de Looper H, Peters MJ, Schurmann C, Yaghootkar H, Dörr M, Frayling TM, Uitterlinden AG, Hofman A, et al (2014). A genetic variant in the seed region of miR-4513 shows pleiotropic effects on lipid and glucose homeostasis, blood pressure, and coronary artery disease. Hum Mutat, 35(12), 1524-1531. Abstract.  Author URL.
Wood AR, Tuke MA, Nalls MA, Hernandez DG, Bandinelli S, Singleton AB, Melzer D, Ferrucci L, Frayling TM, Weedon MN, et al (2014). Another explanation for apparent epistasis. Nature, 514(7520), E3-E5. Author URL.
Vimaleswaran KS, Cavadino A, Berry DJ, Power C, Hyppönen E, Jorde R, Grimnes G, Dieff enbach AK, Schöttker B, Saum KU, et al (2014). Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study. The Lancet Diabetes and Endocrinology, 2(9), 719-729. Abstract.
Vimaleswaran KS, Cavadino A, Berry DJ, LifeLines Cohort Study investigators, Jorde R, Dieffenbach AK, Lu C, Alves AC, Heerspink HJL, Tikkanen E, et al (2014). Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study. Lancet Diabetes Endocrinol, 2(9), 719-729. Abstract.  Author URL.
Scott RA, Fall T, Pasko D, Barker A, Sharp SJ, Arriola L, Balkau B, Barricarte A, Barroso I, Boeing H, et al (2014). Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity. Diabetes, 63(12), 4378-4387. Abstract.  Author URL.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, et al (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics, 46(11), 1173-1186. Abstract.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, et al (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet, 46(11), 1173-1186. Abstract.  Author URL.  Full text.
Elliott HR, Tillin T, McArdle WL, Ho K, Duggirala A, Frayling TM, Smith GD, Hughes AD, Chaturvedi N, Relton CL, et al (2014). Differences in smoking associated DNA methylation patterns in South Asians and Europeans. CLINICAL EPIGENETICS, 6 Author URL.  Full text.
Hassanali N, De Silva NMG, Robertson N, Rayner NW, Barrett A, Bennett AJ, Groves CJ, Matthews DR, Katulanda P, Frayling TM, et al (2014). Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent. PLoS One, 9(6). Abstract.  Author URL.
Yaghootkar H, Scott RA, White CC, Zhang W, Speliotes E, Munroe PB, Ehret GB, Bis JC, Fox CS, Walker M, et al (2014). Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes. Diabetes, 63(12), 4369-4377. Abstract.  Author URL.  Full text.
Frayling TM (2014). Genome-wide association studies: the good, the bad and the ugly. Clin Med (Lond), 14(4), 428-431. Author URL.
Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MCY, Prokopenko I, et al (2014). Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NATURE GENETICS, 46(3), 234-+. Author URL.
Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R, Roef GL, Plantinga TS, Vermeulen SH, et al (2014). Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genet, 10(2). Abstract.  Author URL.  Full text.
Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, Tšernikova N, Luan J, et al (2014). Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. PLoS Genet, 10(7). Abstract.  Author URL.
Frayling TM, Hattersley AT (2014). Physiology helps GWAS take a step closer to mechanism. Diabetes, 63(6), 1836-1837. Author URL.  Full text.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, Manning AK, Hartl C, Agarwala V, et al (2014). Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proceedings of the National Academy of Sciences of the United States of America, 111(36), 13127-13132. Abstract.
Taylor AE, Morris RW, Fluharty ME, Bjorngaard JH, Åsvold BO, Gabrielsen ME, Campbell A, Marioni R, Kumari M, Hällfors J, et al (2014). Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers. PLoS Genet, 10(12). Abstract.  Author URL.
Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, et al (2013). A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function. PLoS Genetics, 9(2). Abstract.  Full text.
Thorgeirsson TE, Gudbjartsson DF, Sulem P, Besenbacher S, Styrkarsdottir U, Thorleifsson G, Walters GB, Furberg H, Sullivan PF, Marchini J, et al (2013). A common biological basis of obesity and nicotine addiction. Translational Psychiatry, 3, 1-7. Abstract.
Menni C, Fauman E, Erte I, Perry JRB, Kastenmüller G, Shin SY, Petersen AK, Hyde C, Psatha M, Ward KJ, et al (2013). Biomarkers for type 2 diabetes and impaired fasting glucose using a nontargeted metabolomics approach. Diabetes, 62(12), 4270-4276. Abstract.
Vimaleswaran KS, Berry DJ, Lu C, Tikkanen E, Pilz S, Hiraki LT, Cooper JD, Dastani Z, Li R, Houston DK, et al (2013). Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts. PLoS Medicine, 10(2). Abstract.  Full text.
Albrechtsen A, Grarup N, Li Y, Sparso T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, et al (2013). Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. DIABETOLOGIA, 56(2), 298-310. Author URL.
Xie W, Wood AR, Lyssenko V, Weedon MN, Knowles JW, Alkayyali S, Assimes TL, Quertermous T, Abbasi F, Paananen J, et al (2013). Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. Diabetes, 62(6), 2141-2150. Abstract.  Author URL.
Crosslin DR, McDavid A, Weston N, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, et al (2013). Genetic variation associated with circulating monocyte count in the eMERGE Network. Human Molecular Genetics, 22(10), 2119-2127. Abstract.
Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, et al (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics, 45(5), 501-512. Abstract.
Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, et al (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics
Wood AR, Perry JRB, Tanaka T, Hernandez DG, Zheng H-F, Melzer D, Gibbs JR, Nalls MA, Weedon MN, Spector TD, et al (2013). Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. PLoS One, 8(5). Abstract.  Author URL.  Full text.
Yaghootkar H, Lamina C, Scott RA, Dastani Z, Hivert M-F, Warren LL, Stancakova A, Buxbaum SG, Lyytikaeinen L-P, Henneman P, et al (2013). Mendelian Randomization Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes. DIABETES, 62(10), 3589-3598. Author URL.
Yaghootkar H, Lamina C, Scott R, Dastani Z, Hivert MF, Lawlor D, Meigs J, Richards B, Frayling T, Consortium A, et al (2013). Mendelian randomisation studies do not support a causal role for reduced circulating adiponectin levels in fasting based measures of insulin resistance and Type 2 diabetes. DIABETIC MEDICINE, 30, 30-30. Author URL.
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, et al (2013). New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics, 45(1), 76-82. Abstract.  Full text.
Tyrrell JS, Yaghootkar H, Freathy RM, Hattersley AT, Frayling TM (2013). Parental diabetes and birthweight in 236 030 individuals in the UK biobank study. Int J Epidemiol, 42(6), 1714-1723. Abstract.  Author URL.  Full text.
Pennell CE, Vadillo-Ortega F, Olson DM, Ha E-H, Williams S, Frayling TM, Dolan S, Katz M, Merialdi M, Menon R, et al (2013). Preterm Birth Genome Project (PGP) - validation of resources for preterm birth genome-wide studies. JOURNAL OF PERINATAL MEDICINE, 41(1), 45-49. Author URL.
Yaghootkar H, Frayling TM (2013). Recent progress in the use of genetics to understand links between type 2 diabetes and related metabolic traits. Genome Biol, 14(3). Abstract.  Author URL.
Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU, Monda KL, Kilpeläinen TO, Esko T, Mägi R, Li S, et al (2013). Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits. PLoS Genetics, 9(6). Abstract.
Westra H-J, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, et al (2013). Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics
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Morrison FS, Locke JM, Wood AR, Tuke M, Pasko D, Murray A, Frayling T, Harries LW (2013). The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts. BMC Genomics, 14 Abstract.  Author URL.  Full text.
Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, et al (2012). A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature Genetics, 44(6), 659-669. Abstract.
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Wilding J, Frayling TM (2012). Are the causes of obesity primarily environmental? Yes/No. BMJ (Online), 345(7875).
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Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, et al (2012). Common variants at 6q22 and 17q21 are associated with intracranial volume. NATURE GENETICS, 44(5), 539-+. Author URL.
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Tyrrell J, Huikari V, Christie JT, Cavadino A, Bakker R, Brion M-JA, Geller F, Paternoster L, Myhre R, Potter C, et al (2012). Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight. Hum Mol Genet, 21(24), 5344-5358. Abstract.  Author URL.  Full text.
Boraska V, Day-Williams A, Franklin CS, Elliott KS, Panoutsopoulou K, Tachmazidou I, Albrecht E, Bandinelli S, Beilin LJ, Bochud M, et al (2012). Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts. PLoS ONE, 7(3). Abstract.
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Cauchi S, Perry J, Almgren P, Scott R, Langenberg C, Wareham N, Groop L, Frayling T, Froguel P, Consortium DIAGRAM, et al (2012). Identification of new genetic polymorphisms linked to type 2 diabetes risk in obese and non-obese Europeans. DIABETES & METABOLISM, 38, A61-A62. Author URL.
Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, et al (2012). Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genetics, 44(9), 981-990. Abstract.
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Islam M, Jafar TH, Wood AR, De Silva NMG, Caulfield M, Chaturvedi N, Frayling TM (2012). Multiple genetic variants explain measurable variance in type 2 diabetes-related traits in Pakistanis. Diabetologia, 55(8), 2193-2204. Abstract.
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, et al (2012). New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics
Dastani Z, Hivert MF, Timpson N, Perry JRB, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, et al (2012). Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genetics, 8(3). Abstract.
Palmer CNA, Maglio C, Pirazzi C, Burza MA, Adiels M, Burch L, Donnelly LA, Colhoun H, Doney AS, Dillon JF, et al (2012). Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant. PLoS ONE, 7(6). Abstract.
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Perry JRB, Voight BF, Yengo L, Amin N, Dupuis J, Ganser M, Grallert H, Navarro P, Li M, Qi L, et al (2012). Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet, 8(5). Abstract.  Author URL.  Full text.
Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, et al (2012). The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits. PLoS Genetics, 8(8). Abstract.
Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JEL, Shah T, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, et al (2012). The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. The Lancet, 379(9822), 1214-1224. Abstract.
Taylor PN, Panicker V, Sayers A, Shields B, Iqbal A, Bremner AP, Beilby JP, Leedman PJ, Hattersley AT, Vaidya B, et al (2011). A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement. Eur J Endocrinol, 164(5), 773-780. Abstract.  Author URL.  Full text.
Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, Stringham HM, Morris AP, Lauritzen T, Doney ASF, Morris AD, et al (2011). A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. DIABETOLOGIA, 54(1), 111-119. Author URL.
Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, Bradley DT, Burnand K, et al (2011). Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. American Journal of Human Genetics, 89(5), 619-627. Abstract.
Paternoster L, Howe LD, Tilling K, Weedon MN, Freathy RM, Frayling TM, Kemp JP, Smith GD, Timpson NJ, Ring SM, et al (2011). Adult height variants affect birth length and growth rate in children. Hum Mol Genet, 20(20), 4069-4075. Abstract.  Author URL.
Wood AR, Hernandez DG, Nalls MA, Yaghootkar H, Gibbs JR, Harries LW, Chong S, Moore M, Weedon MN, Guralnik JM, et al (2011). Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet, 20(20), 4082-4092. Abstract.  Author URL.  Full text.
Rees SD, Islam M, Hydrie MZI, Chaudhary B, Bellary S, Hashmi S, O'Hare JP, Kumar S, Sanghera DK, Chaturvedi N, et al (2011). An FTO variant is associated with Type 2 diabetes in South Asian populations after accounting for body mass index and waist circumference. Diabet Med, 28(6), 673-680. Abstract.  Author URL.
Christmas J, Keedwell E, Frayling T, Perry J (2011). Ant Colony Optimisation to identify Genetic Disease Association for Type 2 Diabetes. Information Sciences, 181(9), 1609-1622.
Timpson NJ, Nordestgaard BG, Harbord RM, Zacho J, Frayling TM, Tybjærg-Hansen A, Smith GD (2011). C-reactive protein levels and body mass index: Elucidating direction of causation through reciprocal Mendelian randomization. International Journal of Obesity, 35(2), 300-308. Abstract.
Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, et al (2011). Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. PLoS Genetics, 7(12). Abstract.
Zhai G, Teumer A, Stolk L, Perry JRB, Vandenput L, Coviello AD, Koster A, Bandinelli S, Bell JT, Bhasin S, et al (2011). EIGHT COMMON GENETIC VARIANTS ASSOCIATED WITH SERUM DHEAS LEVELS SUGGESTS a KEY ROLE IN AGEING MECHANISMS. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 49, S425-S425. Author URL.
Zhai G, Teumer A, Stolk L, Perry JRB, Vandenput L, Coviello AD, Koster A, Bell JT, Bhasin S, Eriksson J, et al (2011). Eight common genetic variants associated with serum dheas levels suggest a key role in ageing mechanisms. PLoS Genetics, 7(4). Abstract.
Pennell CE, Warrington NM, Mook-Kanamori D, Lye SJ, Newnham JP, Palmer LJ, Jaddoe VWV, Freathy RM, Jacobssen B, Holloway J, et al (2011). Genetic Basis for Gestation Length. REPRODUCTIVE SCIENCES, 18(3), 310A-310A. Author URL.
Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, et al (2011). Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature, 478(7367), 103-109. Abstract.
Freathy RM, Kazeem GR, Morris RW, Johnson PCD, Paternoster L, Ebrahim S, Hattersley AT, Hill A, Hingorani AD, Holst C, et al (2011). Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index. Int J Epidemiol, 40(6), 1617-1628. Abstract.  Author URL.
Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, et al (2011). Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes, 60(10), 2624-2634. Abstract.
Bell JT, Timpson NJ, Rayner NW, Zeggini E, Frayling TM, Hattersley AT, Morris AP, McCarthy MI (2011). Genome-wide association scan allowing for epistasis in type 2 diabetes. Ann Hum Genet, 75(1), 10-19. Abstract.  Author URL.
Kooner JS, Saleheen D, Sim X, Sehmi J, Zhang W, Frossard P, Been LF, Chia KS, Dimas AS, Hassanali N, et al (2011). Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nature Genetics, 43(10), 984-989. Abstract.
Yang J, Weedon MN, Purcell S, Lettre G, Estrada K, Willer CJ, Smith AV, Ingelsson E, O'Connell JR, Mangino M, et al (2011). Genomic inflation factors under polygenic inheritance. European Journal of Human Genetics, 19(7), 807-812. Abstract.
Harries LW, Hernandez D, Henley W, Wood AR, Holly AC, Bradley-Smith RM, Yaghootkar H, Dutta A, Murray A, Frayling TM, et al (2011). Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing. Aging Cell, 10(5), 868-878. Abstract.  Author URL.
Yaghootkar H, Hernandez D, Nalls M, Wood A, Gibbs R, Harries L, Chong S, Moore M, Guralnik J, Bandinell S, et al (2011). Identifying likely causal connections between gene expression levels using a Mendelian randomization approach. CLINICAL BIOCHEMISTRY, 44(13), S294-S294. Author URL.
De Silva NMG, Freathy RM, Palmer TM, Donnelly LA, Luan J, Gaunt T, Langenberg C, Weedon MN, Shields B, Knight BA, et al (2011). Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. Diabetes, 60(3), 1008-1018. Abstract.  Author URL.
Nalls MA, Couper DJ, Tanaka T, van Rooij FJA, Chen MH, Smith AV, Toniolo D, Zakai NA, Yang Q, Greinacher A, et al (2011). Multiple loci are associated with white blood cell phenotypes. PLoS Genetics, 7(6). Abstract.
Frayling TM, Ong K (2011). Piecing together the FTO jigsaw. GENOME BIOLOGY, 12(2). Author URL.
Frayling TM, Ong K (2011). Piecing together the FTO jigsaw. Genome Biol, 12(2). Abstract.  Author URL.
Pennell CE, Ang QW, Merialdi M, Williams S, Thorsen P, Katz M, Frayling TM, Olson D, Lye SJ, Vadillo-Ortega F, et al (2011). Preterm Birth Genome Project - Identification of Genetic Variants Associated with Spontaneous Preterm Birth. REPRODUCTIVE SCIENCES, 18(3), 266A-266A. Author URL.
Xie W, Frayling TM, Weedon MN (2011). Recent Progress in Identifying Genes Contributing to Type 2 Diabetes and Metabolic Syndrome. , 106-119.
Edghill EL, Khamis A, Weedon MN, Walker M, Hitman GA, McCarthy MI, Owen KR, Ellard S, T Hattersley A, Frayling TM, et al (2011). Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes. Diabet Med, 28(6), 681-684. Abstract.  Author URL.  Full text.
Morris AP, Lindgren CM, Zeggini E, Timpson NJ, Frayling TM, Hattersley AT, McCarthy MI (2010). A powerful approach to sub-phenotype analysis in population-based genetic association studies. Genetic Epidemiology, 34(4), 335-343. Abstract.
Raffiq S, Frayling T, Vyse T, Cunninghame-Graham D, Eggleton P (2010). Assessing association of common variation in the C1q gene cluster with systemic lupus erythematosus. Clinical Experimental Immunology, 161(2), 284-289.
Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Mägi R, et al (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics, 42(11), 937-948. Abstract.
Heid IM, Henneman P, Hicks A, Coassin S, Winkler T, Aulchenko YS, Fuchsberger C, Song K, Hivert MF, Waterworth DM, et al (2010). Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: Results of genome-wide association analyses including 4659 European individuals. Atherosclerosis, 208(2), 412-420. Abstract.
Reiling E, Jafar-Mohammadi B, Van 'T Riet E, Weedon MN, Van Vliet-Ostaptchouk JV, Hansen T, Saxena R, Van Haeften TW, Arp PA, Das S, et al (2010). Genetic association analysis of LARS2 with type 2 diabetes. Diabetologia, 53(1), 103-110. Abstract.
Perry JRB, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, et al (2010). Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet, 19(3), 535-544. Abstract.  Author URL.
Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, et al (2010). Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nature Genetics, 42(2), 142-148. Abstract.
Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, et al (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-720. Abstract.
Furberg H, Kim Y, Dackor J, Boerwinkle E, Franceschini N, Ardissino D, Bernardinelli L, Mannucci PM, Mauri F, Merlini PA, et al (2010). Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nature Genetics, 42(5), 441-447. Abstract.
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, et al (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467(7317), 832-838. Abstract.  Author URL.
Freathy RM, Hayes MG, Urbanek M, Lowe LP, Lee H, Ackerman C, Frayling TM, Cox NJ, Dunger DB, Dyer AR, et al (2010). Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study: Common Genetic Variants in GCK and TCF7L2 Are Associated with Fasting and Postchallenge Glucose Levels in Pregnancy and with the New Consensus Definition of Gestational Diabetes Mellitus from the International Association of Diabetes and Pregnancy Study Groups. DIABETES, 59(10), 2682-2689. Author URL.
Bell CG, Finer S, Lindgren CM, Wilson GA, Rakyan VK, Teschendorff AE, Akan P, Stupka E, Down TA, Prokopenko I, et al (2010). Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus. PLoS ONE, 5(11). Abstract.
Boraska V, Rayner NW, Groves CJ, Frayling TM, Diakite M, Rockett KA, Kwiatkowski DP, Day-Williams AG, McCarthy MI, Zeggini E, et al (2010). Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes. BMC Medical Genetics, 11(1). Abstract.
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Ssteinthorsdottir V, Tthorleifsson G, Zillikens C, Sspeliotes EK, Mägi R, et al (2010). Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nature Genetics, 42(11), 949-960. Abstract.
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, et al (2010). New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet, 42(2), 105-116. Abstract.  Author URL.
De Silva NMG, Frayling TM (2010). Novel biological insights emerging from genetic studies of type 2 diabetes and related metabolic traits. Curr Opin Lipidol, 21(1), 44-50. Abstract.  Author URL.
Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, et al (2010). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes, 59(1), 266-271. Abstract.  Author URL.
Cluett C, Brayne C, Clarke R, Evans G, Matthews F, Rubinsztein DC, Huppert F, Llewellyn DJ, Rice N, Henley W, et al (2010). Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people. Neurobiol Aging, 31(9), 1563-1568. Abstract.  Author URL.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2010). Role of low frequency variants in HNF1A exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform a to susceptibility to Type 2 diabetes. IRISH JOURNAL OF MEDICAL SCIENCE, 179, 538-538. Author URL.
Webster RJ, Warrington NM, Beilby JP, Frayling TM, Palmer LJ (2010). The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI. BMC Medical Genetics, 11(1). Abstract.
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, et al (2010). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics, 42(7), 579-589. Abstract.
Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, et al (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet, 42(5), 430-435. Abstract.  Author URL.
Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT (2009). A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet, 18(15), 2922-2927. Abstract.  Author URL.
Brent Richards J, Waterworth D, O'Rahilly S, Hivert MF, Loos RJF, Perry JRB, Tanaka T, Timpson NJ, Semple RK, Soranzo N, et al (2009). A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genetics, 5(12). Abstract.
Timpson NJ, Lindgren CM, Weedon MN, Randall J, Ouwehand WH, Strachan DP, Rayner NW, Walker M, Hitman GA, Doney ASF, et al (2009). Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes, 58(2), 505-510. Abstract.  Author URL.
Perry JRB, Ferrucci L, Bandinelli S, Guralnik J, Semba RD, Rice N, Melzer D, DIAGRAM Consortium, Saxena R, Scott LJ, et al (2009). Circulating beta-carotene levels and type 2 diabetes-cause or effect?. Diabetologia, 52(10), 2117-2121. Abstract.  Author URL.
Frayling TM (2009). Commentary: a new dawn for genetic epidemiology?. Int J Epidemiol, 38(4), 975-977. Author URL.
Langenberg C, Pascoe L, Mari A, Tura A, Laakso M, Frayling TM, Barroso I, Loos RJF, Wareham NJ, Walker M, et al (2009). Common genetic variation in the melatonin receptor 1B gene (MTNR1B) is associated with decreased early-phase insulin response. Diabetologia, 52(8), 1537-1542. Abstract.
Murray A, Cluett C, Bandinelli S, Corsi AM, Ferrucci L, Guralnik J, Singleton A, Frayling T, Melzer D (2009). Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Eur Heart J, 30(14), 1711-1719. Abstract.  Author URL.  Full text.
Panicker V, Saravanan P, Vaidya B, Evans J, Hattersley AT, Frayling TM, Dayan CM (2009). Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. J Clin Endocrinol Metab, 94(5), 1623-1629. Abstract.  Author URL.
Ferrucci L, Perry JRB, Matteini A, Perola M, Tanaka T, Silander K, Rice N, Melzer D, Murray A, Cluett C, et al (2009). Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Am J Hum Genet, 84(2), 123-133. Abstract.  Author URL.
Yajnik CS, Janipalli CS, Bhaskar S, Kulkarni SR, Freathy RM, Prakash S, Mani KR, Weedon MN, Kale SD, Deshpande J, et al (2009). FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians. Diabetologia, 52(2), 247-252. Abstract.  Author URL.
Hennig BJ, Fulford AJ, Sirugo G, Rayco-Solon P, Hattersley AT, Frayling TM, Prentice AM (2009). FTO gene variation and measures of body mass in an African population. BMC Med Genet, 10 Abstract.  Author URL.
Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, et al (2009). Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution. PLoS Genetics, 5(6). Abstract.
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, et al (2009). Genome-wide association study identifies eight loci associated with blood pressure. Nature Genetics, 41(6), 666-676. Abstract.
Thomas K, Rafiq S, Frayling TM, Ebrahim S, Kumari M, Gallacher J, Ferrucci L, Bandinelli S, Wallace RB, Melzer D, et al (2009). Interleukin-18 polymorphism and physical functioning in older people: a replication study and meta-analysis. J Gerontol a Biol Sci Med Sci, 64(11), 1177-1182. Abstract.  Author URL.
Perry JRB, McCarthy MI, Hattersley AT, Zeggini E, Wellcome Trust Case Control Consortium, Weedon MN, Frayling TM (2009). Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes, 58(6), 1463-1467. Abstract.  Author URL.
Southam L, Soranzo N, Montgomery SB, Frayling TM, McCarthy MI, Barroso I, Zeggini E (2009). Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?. Diabetologia, 52(9), 1846-1851. Abstract.
Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, et al (2009). Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes, 58(7), 1704-1709. Abstract.  Author URL.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2009). Low Frequency Variants in the Exons Only Encoding Isoform a of HNF1A Do Not Contribute to Susceptibility to Type 2 Diabetes. PLOS ONE, 4(8). Author URL.
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, et al (2009). Parental origin of sequence variants associated with complex diseases. Nature, 462(7275), 868-874. Abstract.
Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B (2009). Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. J Clin Endocrinol Metab, 94(11), 4608-4612. Abstract.  Author URL.
Perry JRB, Weedon MN, Frayling TM (2009). Response to comment on: Perry et al. (2009) Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes;58:1463-1467. Diabetes, 58(9).
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, et al (2009). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet, 41(1), 25-34. Abstract.  Author URL.
Cluett C, McDermott MM, Guralnik J, Ferrucci L, Bandinelli S, Miljkovic I, Zmuda JM, Li R, Tranah G, Harris T, et al (2009). The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people. Circ Cardiovasc Genet, 2(4), 347-353. Abstract.  Author URL.
Webster RJ, Warrington NM, Weedon MN, Hattersley AT, McCaskie PA, Beilby JP, Palmer LJ, Frayling TM (2009). The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits. Diabetologia, 52(1), 106-114. Abstract.  Author URL.
Rice NE, Bandinelli S, Corsi AM, Ferrucci L, Guralnik JM, Miller MA, Kumari M, Murray A, Frayling TM, Melzer D, et al (2009). The paraoxonase (PON1) Q192R polymorphism is not associated with poor health status or depression in the ELSA or INCHIANTI studies. Int J Epidemiol, 38(5), 1374-1379. Abstract.  Author URL.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, et al (2009). Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes, 58(6), 1428-1433. Abstract.  Author URL.
Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, et al (2009). Underlying genetic models of inheritance in established type 2 diabetes associations. American Journal of Epidemiology, 170(5), 537-545. Abstract.
Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JRB, Weedon MN, Singleton A, Hernandez D, Evans J, et al (2008). A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab, 93(8), 3075-3081. Abstract.  Author URL.
Frayling TM, Colhoun H, Florez JC (2008). A genetic link between type 2 diabetes and prostate cancer. Diabetologia, 51(10), 1757-1760. Abstract.  Author URL.
Melzer D, Perry JRB, Hernandez D, Corsi A-M, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, et al (2008). A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet, 4(5). Abstract.  Author URL.  Full text.
Lango H, UK Type 2 Diabetes Genetics Consortium, Palmer CNA, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN (2008). Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes, 57(11), 3129-3135. Abstract.  Author URL.
Pascoe L, Frayling TM, Weedon MN, Mari A, Tura A, Ferrannini E, Walker M, RISC Consortium (2008). Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles. Diabetologia, 51(11), 1989-1992. Abstract.  Author URL.
Frayling TM (2008). Commentary: Genetic association studies see light at the end of the tunnel. Int J Epidemiol, 37(1), 133-135. Author URL.
Loos RJF, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, et al (2008). Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet, 40(6), 768-775. Abstract.  Author URL.
Freathy RM, Timpson NJ, Lawlor DA, Pouta A, Ben-Shlomo Y, Ruokonen A, Ebrahim S, Shields B, Zeggini E, Weedon MN, et al (2008). Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI. Diabetes, 57(5), 1419-1426. Abstract.  Author URL.
Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD (2008). Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Medicine, 5(3), 0484-0493. Abstract.
Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD (2008). Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Med, 5(3). Abstract.  Author URL.
Rice NE, Patel BD, Lang IA, Kumari M, Frayling TM, Murray A, Melzer D (2008). Filaggrin gene mutations are associated with asthma and eczema in later life. J Allergy Clin Immunol, 122(4), 834-836. Author URL.
Melzer D, Ferrucci L, Singleton A, Guralnik JM, Murray A, Bandinelli S, Corsi A, Frayling T, Bandinelli S (2008). GENETIC VARIATION AND RESILIENCE IN HUMAN AGING: THE SAGA STUDY. GERONTOLOGIST, 48, 1-1. Author URL.
Rafiq S, Melzer D, Weedon MN, Lango H, Saxena R, Scott LJ, DIAGRAM Consortium, Palmer CNA, Morris AD, McCarthy MI, et al (2008). Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Diabetologia, 51(12), 2205-2213. Abstract.  Author URL.
Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JRB, Stevens S, Hall AS, et al (2008). Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet, 40(5), 575-583. Abstract.  Author URL.
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PIW, Abecasis GR, Almgren P, Andersen G, et al (2008). Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet, 40(5), 638-645. Abstract.  Author URL.
Perry JRB, Frayling TM (2008). New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function. Curr Opin Clin Nutr Metab Care, 11(4), 371-377. Abstract.  Author URL.
Yuan X, Waterworth D, Perry JRB, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, et al (2008). Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet, 83(4), 520-528. Abstract.  Author URL.
Barroso I, Luan J, Wheeler E, Whittaker P, Wasson J, Zeggini E, Weedon MN, Hunt S, Venkatesh R, Frayling TM, et al (2008). Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies. Diabetes, 57(11), 3161-3165. Abstract.  Author URL.
Weedon MN, Frayling TM (2008). Reaching new heights: insights into the genetics of human stature. Trends Genet, 24(12), 595-603. Abstract.  Author URL.
Timpson NJ, Emmett PM, Frayling TM, Rogers I, Hattersley AT, McCarthy MI, Davey Smith G (2008). The fat mass- and obesity-associated locus and dietary intake in children. Am J Clin Nutr, 88(4), 971-978. Abstract.  Author URL.
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, et al (2007). A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316(5826), 889-894. Abstract.  Author URL.
Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JRB, Elliott KS, Hackett R, Guiducci C, Shields B, et al (2007). A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet, 39(10), 1245-1250. Abstract.  Author URL.
Rafiq S, Frayling TM, Murray A, Hurst A, Stevens K, Weedon MN, Henley W, Ferrucci L, Bandinelli S, Corsi A-M, et al (2007). A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects. Genes Immun, 8(7), 552-559. Abstract.  Author URL.
Melzer D, Frayling TM, Murray A, Hurst AJ, Harries LW, Song H, Khaw K, Luben R, Surtees PG, Bandinelli SS, et al (2007). A common variant of the p16(INK4a) genetic region is associated with physical function in older people. Mech Ageing Dev, 128(5-6), 370-377. Abstract.  Author URL.
Frayling TM (2007). A new era in finding Type 2 diabetes genes-the unusual suspects. Diabet Med, 24(7), 696-701. Abstract.  Author URL.
Frayling TM, Rafiq S, Murray A, Hurst AJ, Weedon MN, Henley W, Bandinelli S, Corsi A-M, Ferrucci L, Guralnik JM, et al (2007). An interleukin-18 polymorphism is associated with reduced serum concentrations and better physical functioning in older people. J Gerontol a Biol Sci Med Sci, 62(1), 73-78. Abstract.  Author URL.
Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, et al (2007). Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet, 39(11), 1329-1337. Abstract.  Author URL.
Rafiq S, Stevens K, Hurst AJ, Murray A, Henley W, Weedon MN, Bandinelli S, Corsi AM, Guralnik JM, Ferruci L, et al (2007). Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels. Genes Immun, 8(4), 344-351. Abstract.  Author URL.
Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, et al (2007). Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet, 39(8), 951-953. Abstract.  Author URL.
Chandak GR, Janipalli CS, Bhaskar S, Kulkarni SR, Mohankrishna P, Hattersley AT, Frayling TM, Yajnik CS (2007). Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia, 50(1), 63-67. Abstract.  Author URL.
Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferrannini E, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, et al (2007). Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes, 56(12), 3101-3104. Abstract.  Author URL.
Owen KR, Groves CJ, Hanson RL, Knowler WC, Shuldiner AR, Elbein SC, Mitchell BD, Froguel P, Ng MCY, Chan JC, et al (2007). Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects. Diabetes, 56(3), 879-883. Abstract.  Author URL.
Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, et al (2007). Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes, 56(3), 685-693. Abstract.  Author URL.
Frayling TM, McCarthy MI (2007). Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here?. Diabetologia, 50(11), 2229-2233. Author URL.
Melzer D, Hurst AJ, Frayling T (2007). Genetic variation and human aging: progress and prospects. J Gerontol a Biol Sci Med Sci, 62(3), 301-307. Abstract.  Author URL.
Frayling TM (2007). Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet, 8(9), 657-662. Abstract.  Author URL.
Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, et al (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NATURE, 447(7145), 661-678. Author URL.
Weedon MN, Frayling TM (2007). Insights on pathogenesis of type 2 diabetes from MODY genetics. Curr Diab Rep, 7(2), 131-138. Abstract.  Author URL.
Nejentsev S, Howson JMM, Walker NM, Szeszko J, Field SF, Stevens HE, Reynolds P, Hardy M, King E, Masters J, et al (2007). Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature, 450(7171), 887-892. Abstract.
Lango H, Ellard S, Colclough K, Frayling TM, Hattersley AT, Weedon MN (2007). Modifying effect of common Type 2 diabetes associated variants on MODY age of onset. DIABETIC MEDICINE, 24, 11-11. Author URL.
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, et al (2007). Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science, 316(5829), 1336-1341. Abstract.  Author URL.
De Silva NMG, Steele A, Shields B, Knight B, Parnell K, Weedon MN, Hattersley AT, Frayling TM (2007). The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies. Diabet Med, 24(10), 1067-1072. Abstract.  Author URL.
Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, et al (2007). Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet, 80(6), 1150-1161. Abstract.  Author URL.
Freathy RM, Weedon MN, McCarthy MI, Walker M, Hitman GA, Ring SM, Ben-Shlomo Y, Smith GD, Hattersley AT, Frayling TM, et al (2007). Type 2 diabetes transcription factor 7-like 2 (TCF7L2) risk alleles reduce beta-cell function and increase birth weight. DIABETIC MEDICINE, 24, 10-10. Author URL.
Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, et al (2006). A common haplotype of glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet, 79(6), 991-1001.
Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, et al (2006). A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet, 79(6), 991-1001. Abstract.  Author URL.
Freathy RM, Mitchell SMS, Knight B, Shields B, Weedon MN, Hattersley AT, Frayling TM (2006). A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population. J Negat Results Biomed, 5 Abstract.  Author URL.  Full text.
Ward KJ, Ellard S, Yajnik CS, Frayling TM, Hattersley AT, Venigalla PNS, Chandak GR (2006). Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene. Lipids Health Dis, 5 Abstract.  Author URL.
Porter JR, Rangasami JJ, Ellard S, Gloyn AL, Shields BM, Edwards J, Anderson JM, Shaw NJ, Hattersley AT, Frayling TM, et al (2006). Asian MODY: are we missing an important diagnosis?. Diabet Med, 23(11), 1257-1260. Abstract.  Author URL.
Gloyn AL, Mackay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM, et al (2006). Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. Diabetes, 55(8), 2272-2276. Abstract.  Author URL.
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, et al (2006). Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk (vol 55, pg 2640, 2006). DIABETES, 55(12), 3635-3635. Author URL.
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, et al (2006). Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes, 55(9), 2640-2644. Abstract.  Author URL.
Tsuchiya T, Schwarz PEH, Bosque-Plata LD, Geoffrey Hayes M, Dina C, Froguel P, Wayne Towers G, Fischer S, Temelkova-Kurktschiev T, Rietzsch H, et al (2006). Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab, 89(1-2), 174-184. Abstract.  Author URL.
Weedon MN, Hattersley AT, Frayling TM (2006). Chapter 1 Transcription factor genes in type 2 diabetes. Advances in Molecular and Cellular Endocrinology, 5(C), 1-14. Abstract.
Weedon MN, McCarthy MI, Hitman G, Walker M, Groves CJ, Zeggini E, Rayner NW, Shields B, Owen KR, Hattersley AT, et al (2006). Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med, 3(10). Abstract.  Author URL.
Patel S, Minton JAL, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG, et al (2006). Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population. Diabetologia, 49(6), 1209-1213. Abstract.  Author URL.
Melzer D, Murray A, Hurst AJ, Weedon MN, Bandinelli S, Corsi AM, Ferrucci L, Paolisso G, Guralnik JM, Frayling TM, et al (2006). Effects of the diabetes linked TCF7L2 polymorphism in a representative older population. BMC Med, 4 Abstract.  Author URL.
Wiltshire S, Bell JT, Groves CJ, Dina C, Hattersley AT, Frayling TM, Walker M, Hitman GA, Vaxillaire M, Farrall M, et al (2006). Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. Ann Hum Genet, 70(Pt 6), 726-737. Abstract.  Author URL.
Freathy RM, Weedon MN, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population. JOP, 7(3), 295-302. Abstract.  Author URL.
Weedon MN, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians. Diabetes, 55(11), 3175-3179. Abstract.  Author URL.
Frayling TM, Ward KJ, Weedon MN (2006). Recent Progress in the Identification of Genes Predisposing to the Metabolic Syndrome. , 143-162.
Freathy RM, Weedon MN, Melzer D, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. BMC Med Genet, 7 Abstract.  Author URL.  Full text.
Freathy RM, Lonnen KF, Steele AM, Minton JAL, Frayling TM, Hattersley AT, Macleod KM (2006). The impact of the angiotensin-converting enzyme insertion/deletion polymorphism on severe hypoglycemia in Type 2 diabetes. Rev Diabet Stud, 3(2), 76-81. Abstract.  Author URL.
Chandak GR, Ward KJ, Yajnik CS, Pandit AN, Bavdekar A, Joglekar CV, Fall CHD, Mohankrishna P, Wilkin TJ, Metcalf BS, et al (2006). Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans. BMC Med Genet, 7 Abstract.  Author URL.
Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2005). A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population. Diabetes, 54(8), 2487-2491. Abstract.  Author URL.
Zeggini E, Parkinson JRC, Halford S, Owen KR, Walker M, Hitman GA, Levy JC, Sampson MJ, Frayling TM, Hattersley AT, et al (2005). Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabet Med, 22(12), 1696-1700. Abstract.  Author URL.
Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, et al (2005). Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes, 54(2), 576-581. Abstract.  Author URL.
Zeggini E, Groves CJ, Parkinson JRC, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, et al (2005). Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia, 48(10), 2013-2017. Abstract.  Author URL.
Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JMCL, Molnes J, et al (2004). Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med, 350(18), 1838-1849. Abstract.  Author URL.
Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'rahilly S, et al (2004). Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia, 47(12), 2168-2175. Abstract.  Author URL.
Zeggini E, Parkinson J, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, Sampson MJ, Feskens EJM, et al (2004). Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset. Diabetes, 53(12), 3319-3322. Abstract.  Author URL.
Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM, et al (2004). Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population. Diabetes, 53(11), 3002-3006. Abstract.  Author URL.
Wiltshire S, Frayling TM, Groves CJ, Levy JC, Hitman GA, Sampson M, Walker M, Menzel S, Hattersley AT, Cardon LR, et al (2004). Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes, 53(3), 855-860. Abstract.  Author URL.
Mitchell SMS, Hattersley AT, Knight B, Turner T, Metcalf BS, Voss LD, Davies D, McCarthy A, Wilkin TJ, Smith GD, et al (2004). Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations. J Clin Endocrinol Metab, 89(1), 310-317. Abstract.  Author URL.
Owen KR, Evans JC, Frayling TM, Hattersley AT, McCarthy MI, Walker M, Hitman GA (2004). Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes. Diabetologia, 47(5), 957-958. Author URL.
Weedon MN, Hattersley AT, Frayling TM (2004). Tall stories: the fundamental difficulties of genetic association studies. Clin Endocrinol (Oxf), 60(1), 145-146. Author URL.
Frayling TM, Lindgren CM, Chevre JC, Menzel S, Wishart M, Benmezroua Y, Brown A, Evans JC, Rao PS, Dina C, et al (2003). A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes, 52(3), 872-881. Abstract.  Author URL.
Groves CJ, Wiltshire S, Smedley D, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, Menzel S, et al (2003). Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. Diabetes, 52(5), 1300-1305. Abstract.  Author URL.
Lockwood CR, Frayling TM (2003). Combining genome and mouse knockout expression data to highlight binding sites for the transcription factor HNF1alpha. In Silico Biol, 3(1-2), 57-70. Abstract.  Author URL.
Ward KJ, Shields B, Knight B, Salzmann MB, Hattersley AT, Frayling TM (2003). Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy. Lipids Health Dis, 2 Abstract.  Author URL.
Mitchell SMS, Weedon MN, Owen KR, Shields B, Wilkins-Wall B, Walker M, McCarthy MI, Frayling TM, Hattersley AT (2003). Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjects. Diabetes, 52(5), 1276-1279. Abstract.  Author URL.
Lockwood CR, Bingham C, Frayling TM (2003). In silico searching of human and mouse genome data identifies known and unknown HNF1 binding sites upstream of beta-cell genes. Mol Genet Metab, 78(2), 145-151. Abstract.  Author URL.
TFrayling, Gloyn AL, Knight BA, Weedon MN (2003). Large-Scale Association Studies of Variants in Genes Encoding the Pancreatic beta-Cell K(ATP) Channel Subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with Type 2 diabetes. Diabetes, 52(2), 568-572.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, et al (2003). Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes, 52(2), 568-572. Abstract.  Author URL.
Weedon MN, Schwarz PEH, Horikawa Y, Iwasaki N, Illig T, Holle R, Rathmann W, Selisko T, Schulze J, Owen KR, et al (2003). Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet, 73(5), 1208-1212. Author URL.
Weedon MN, Gloyn AL, Frayling TM, Hattersley AT, Davey Smith G, Ben-Shlomo Y (2003). Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2. Diabetologia, 46(7), 1021-1023. Author URL.
Weedon MN, Turner M, Knight B, Clark P, Hattersley AT, Frayling TM (2003). Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population. Clin Endocrinol (Oxf), 59(2), 175-179. Abstract.  Author URL.
Frayling TM, Wiltshire S, Hitman GA, Walker M, Levy JC, Sampson M, Groves CJ, Menzel S, McCarthy MI, Hattersley AT, et al (2003). Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11. Diabetes, 52(7), 1857-1863. Abstract.  Author URL.
Andersen G, Hansen T, Gharani N, Frayling TM, Owen KR, Sampson M, Ellard S, Walker M, Hitman GA, Hattersley AT, et al (2002). A common Gly482Ser polymorphism of PGC-1 is associated with type 2 diabetes mellitus in two European populations. DIABETES, 51, A49-A50. Author URL.
Frayling TM, Hattersley AT, McCarthy A, Holly J, Mitchell SMS, Gloyn AL, Owen K, Davies D, Smith GD, Ben-Shlomo Y, et al (2002). A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations. Diabetes, 51(7), 2313-2316. Abstract.  Author URL.
Frayling TM, Minton J, Knight B, Turner T, Barrett TG, Hattersley AT (2002). A putative type 2 diabetes susceptibility allele in the WFS1 gene and fetal growth. DIABETES, 51, A264-A264. Author URL.
Shore AC, Evans JC, Frayling TM, Clark PM, Lee BC, Horikawa Y, Hattersley AT, Tooke JE (2002). Association of calpain-10 gene with microvascular function. Diabetologia, 45(6), 899-904. Abstract.  Author URL.
Minton JAL, Hattersley AT, Owen K, McCarthy MI, Walker M, Latif F, Barrett T, Frayling TM (2002). Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes, 51(4), 1287-1290. Abstract.  Author URL.
Frayling TM, Hattersley AT, Smith GD, Ben-Shlomo Y (2002). Conflicting results on variation in the IGFI gene highlight methodological considerations in the design of genetic association studies. Diabetologia, 45(11), 1605-1606. Author URL.
Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O'Rahilly S, Groves CJ, Menzel S, Cardon LR, et al (2002). Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. Am J Hum Genet, 70(2), 543-546. Abstract.  Author URL.  Full text.
Minton JAL, Hattersley AT, Owen K, Mccarthy MI, Walker M, Latif F, Barrett TG, Frayling TM (2002). Genetic variation in the WFS1 gene: Association and linkage studies in type 2 diabetes UK Populations. DIABETES, 51, A39-A39. Author URL.
Gloyn AL, Desai M, Clark A, Levy JC, Holman RR, Frayling TM, Hattersley AT, Ashcroft SJH (2002). Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes. Diabetologia, 45(4), 580-583. Abstract.  Author URL.
Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT (2002). Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care, 25(12), 2287-2291. Abstract.  Author URL.
Mitchell SMS, Hattersley AT, McCarthy A, Turner T, Knight B, Davies D, Smith GD, Ben-Shlomo Y, Frayling TM (2002). No evidence for role of INS-VNTR locus in determining birthweight. DIABETES, 51, A261-A261. Author URL.
Mitchell SMS, Vaxillaire M, Thomas H, Parrizas M, Benmezroua Y, Costa A, Hansen T, Owen KR, Tuomi T, Pirie F, et al (2002). Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes. Diabetologia, 45(9), 1344-1348. Abstract.  Author URL.
Mitchell SMS, Gloyn AL, Owen KR, Hattersley AT, Frayling TM (2002). The role of the HNF4alpha enhancer in type 2 diabetes. Mol Genet Metab, 76(2), 148-151. Abstract.  Author URL.
Mitchell SMS, Frayling TM (2002). The role of transcription factors in maturity-onset diabetes of the young. Mol Genet Metab, 77(1-2), 35-43. Abstract.  Author URL.
Mccarthy MI, Wiltshire S, Hattersley AT, Walker M, Hitman GA, O'Rahilly S, Levy JC, Menzel S, Frayling TM, Groves CJ, et al (2002). The type 2 diabetes susceptibility region on chromosome 1q: Studies in UK and French nuclear families. DIABETES, 51, A50-A51. Author URL.
Lynn S, Evans JC, White C, Frayling TM, Hattersley AT, Turnbull DM, Horikawa Y, Cox NJ, Bell GI, Walker M, et al (2002). Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes, 51(1), 247-250. Abstract.  Author URL.
Haddad L, Evans JC, Gharani N, Robertson C, Rush K, Wiltshire S, Frayling TM, Wilkin TJ, Demaine A, Millward A, et al (2002). Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab, 87(6), 2606-2610. Abstract.  Author URL.
Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, et al (2001). A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet, 10(19), 2089-2097. Abstract.  Author URL.
Frayling TM, Menzel S, Wishart M, Vaxillaire M, Lindgren C, Tuomi T, Wang Y, Brown A, Bulman MP, Ellard S, et al (2001). A genome scan reveals heterogeneity among European families with maturity onset diabetes of the young. DIABETOLOGIA, 44, A64-A64. Author URL.
Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O'Rahilly S, Frayling TM, Bell JI, Lathrop GM, et al (2001). A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet, 69(3), 553-569. Abstract.  Author URL.  Full text.
Mitchell SMS, Thomas H, Jaschkowitz K, Bulman MP, Frayling TM, Tack C, Ellard S, Ryffel GU, Hattersley AT (2001). A mutation of a novel splice variant of HNF-4a co-segregates with maturity-onset diabetes of the young (MODY). DIABETOLOGIA, 44, A65-A65. Author URL.
Gloyn AL, Desai M, Clark A, Holman RR, Levy JC, Frayling TM, Hattersley AT, Ashcroft SJH (2001). Calcium/calmodulin - Dependent protein kinase II gamma: Cloning, determination of genomic structure and screening for variants in subjects with type 2 diabetes. DIABETES, 50, A236-A236. Author URL.
Gloyn AL, Desai M, Clark A, Holman RR, Frayling TM, Hattersley AT, Ashcroft SJH (2001). Calcium/calmodulin dependent protein kinase II genes: Genomic structure and screening for variants in subjects with Type 2 diabetes. DIABETOLOGIA, 44, A88-A88. Author URL.
McCarthy MI, Hattersley AT, Walker M, Hitman GA, Levy JC, O'Rahilly S, Frayling TM, Bennett A, Smedley D, Menzel S, et al (2001). Genome scan linkage data from a large European family collection supports localisation of a type 2 diabetes susceptibility gene to chromosome 1q21-23. DIABETES, 50, A27-A27. Author URL.
Frayling TM, Wiltshire S, Walker M, Hitman GA, Levy JC, O'Rahilly S, Lathrop M, Menzel SM, McCarthy MI, Hattersley AT, et al (2001). Genome wide linkage analyses in subsets of young onset type 2 diabetes families from the diabetes (UK) warren 2 sibpair repository reveal loci on chromosomes 1, 5, 8, 10 and 22. DIABETES, 50, A28-A28. Author URL.
McCarthy MI, Hattersley AT, Walker M, Hitman GA, Levy JC, O'Rahilly S, Lathrop GM, Simecek N, Wishart M, Dhillon R, et al (2001). Linkage analysis in the Diabetes (UK) Warren 2 sibpair repository supports localisation of a type 2 diabetes susceptibility gene to chromosome 1q21-24. DIABETOLOGIA, 44, A37-A37. Author URL.
Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O'Rahilly S, Rao PV, Bennett AJ, et al (2001). Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet, 69(3), 544-552. Abstract.  Author URL.
Frayling TM, Hattersley AT (2001). The role of genetic susceptibility in the association of low birth weight with type 2 diabetes. Br Med Bull, 60, 89-101. Abstract.  Author URL.
Minton J, Hattersley A, Frayling T, Barrett T (2001). Variations in the WFS1 (Wolfram syndrome) gene are not associated with type 2 diabetes. DIABETOLOGIA, 44, A95-A95. Author URL.
Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, et al (2001). β-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors. Diabetes, 50(SUPPL. 1). Abstract.
Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT, et al (2001). β-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations. Diabetes, 50(SUPPL. 1). Abstract.
Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, et al (2000). Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int, 57(3), 898-907. Abstract.  Author URL.
Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI, et al (2000). Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles. Diabetes, 49(1), 126-130. Abstract.  Author URL.
Evans JC, Frayling TM, Ellard S, Gutowski NJ (2000). Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet, 106(6), 636-638. Abstract.  Author URL.
Cassell PG, Saker PJ, Huxtable SJ, Kousta E, Jackson AE, Hattersley AT, Frayling TM, Walker M, Kopelman PG, Ramachandran A, et al (2000). Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin. Diabetologia, 43(12), 1558-1564. Abstract.  Author URL.
Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M (2000). Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios. Diabetologia, 43(3), 384-385. Author URL.
Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayers S, Shepherd M, Clark P, Millward A, et al (2000). Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest, 106(5). Author URL.
Turnpenny P, Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Hattersley AT, Ellard S (2000). Multiple vertebral segmentation defects in spondylocostal dysostosis are caused by mutations in the human Delta homologue DLL3, a somite boundary gene in the Notch signalling pathway. JOURNAL OF MEDICAL GENETICS, 37, S24-S24. Author URL.
Tumpenny PD, Bulman MP, Kusumi K, Frayling TM, Duncan J, McKeown C, Garrett C, Krumlauf R, Hattersley AT, Ellard S, et al (2000). Mutations in the human Delta homologue, DLL3, a Notch signaling pathway gene, disrupt somite boundary formation in spondylocostal dysostosis, which demonstrates both clinical and genetic heterogeneity. AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 13-13. Author URL.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD, et al (2000). Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet, 24(4), 438-441. Abstract.  Author URL.
Frayling TM, McCarthy MI, Walker M, Levy JC, O'Rahilly S, Hitman GA, Rao PV, Bennett AJ, Jones EC, Menzel S, et al (2000). No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians. J Clin Endocrinol Metab, 85(2), 853-857. Abstract.  Author URL.
Ellard S, Bulman MP, Frayling TM, Shepherd M, Hattersley AT (2000). Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY). Hum Mutat, 16(3). Abstract.  Author URL.
Vaxillaire M, Chevre JC, Benmezroua Y, Lecoeur C, Dina C, Costa A, Conget I, Hansen T, Frayling T, Hattersley AT, et al (2000). Search for new genetic determinants of early-onset type 2 diabetes: Genetic and clinical dissection of MODY-like inherited diabetes. DIABETOLOGIA, 43, A81-A81. Author URL.
McCarthy MI, Hattersley AT, Walker M, Hitman GA, Levy JC, O'Rahilly S, Lathrop GM, Simecek N, Wishart M, Dhillon R, et al (2000). The BDA Warren Type 2 Diabetes Sibpair Repository: Susceptibility regions identified by genome scan of 439 European families. DIABETOLOGIA, 43, A50-A50. Author URL.
McCarthy M, Hattersley A, Walker M, Hitman G, Levy J, O'Rahilly S, Lathrop M, Simecek N, Wishart M, Dhillon R, et al (2000). The British Diabetic Association Warren Type 2 Diabetes Sibpair Repository: Interim report on a genome-wide scan for linkage in 439 European sibpair families. DIABETES, 49, A199-A199. Author URL.
Frayling TM, Evans JC, Ellard S, Hattersley AT, Consortium SGBDAW2 (2000). Transmission disequilibrium at the calpain10/NIDDM1 gene in UK Caucasian type 2 diabetes parent-offspring trios. DIABETES, 49, A8-A8. Author URL.
Eliard S, Bingham C, Allen LIS, Bulman MP, Frayling TM, Shepherd M, Berry P, Hattersley AT (1999). A 5bp deletion in the hepatocyte nuclear factor 1-beta gene is associated with diabetes and renal dysfunction. JOURNAL OF MEDICAL GENETICS, 36, S62-S62. Author URL.
Hattersley AT, Bingham C, Shepard M, Allen LI, Berry P, Bulman M, Frayling TM, Ellard S (1999). A frameshift mutation in hepatocyte nuclear factor 1 beta cause diabetes by beta cell dysfunction and renal dysfunction by abnormal nephron development. DIABETES, 48, A33-A33. Author URL.
Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S (1999). A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet, 65(1), 175-182. Abstract.  Author URL.
Ellard S, Bulman MP, Frayling TM, Allen LI, Dronsfield MJ, Tack CJ, Hattersley AT (1999). Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes, 48(4), 921-923. Author URL.
Frayling TM, Evans JC, Allen LIS, Macfarlane W, Docherty K, Milward A, Demaine A, Wilkin TJ, Ayres S, Clark P, et al (1999). Functional missense mutations in the insulin promoter factor 1 (IPF1) gene predispose to type 2 diabetes. DIABETES, 48, A33-A33. Author URL.
Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M (1999). Intermediate GAA repeat expansions of the X25/frataxin gene in type 2 diabetes. DIABETOLOGIA, 42, A120-A120. Author URL.
Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, et al (1999). Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest, 104(9), R33-R39. Abstract.  Author URL.  Full text.
Frayling TM, Walker M, McCarthy MI, Evans JC, Allen LI, Lynn S, Ayres S, Millauer B, Turner C, Turner RC, et al (1999). Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. Diabetes, 48(12), 2475-2479. Abstract.  Author URL.
Frayling TM, Mccarthy M, Walker M, Evans JC, Allen LIS, Ayres S, Ellard S, Hattersley AT (1999). The collection of Type 2 diabetics with both parents alive to facilitate the identification of susceptibility genes: the BDA Warren 2 Type 2 diabetes Trios. DIABETES, 48, A402-A402. Author URL.
Huxtable SJ, Saker PJ, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI (1999). The insulin gene and type 2 diabetes: Evidence for linkage and association mediated exclusively by paternally-derived alleles. DIABETOLOGIA, 42, A20-A20. Author URL.
McCarthy MI, Saker PJ, Hattersley AT, Frayling T, Walker M, Turner R, O'Rahilly S, Hitman G, Rao PS (1999). Type 2 diabetes and the human homolog of the rat insulin resistance gene, CD36: No linkage or association in Europeans. DIABETOLOGIA, 42, A118-A118. Author URL.
Saker PJ, Huxtable AT, Hattersley AT, Walker M, Frayling T, Kousta E, McCarthy M (1999). Variation in the gene for the skeletal muscle uncoupling protein (UCP3): a novel promoter variant influencing fat distribution. DIABETOLOGIA, 42, A119-A119. Author URL.
Saker P, Hattersley A, Walker M, Frayling T, Wahid F, Cooper L, Scott J, Aitman T, Mccarthy MI (1999). Variation in the human homolog of the rodent insulin-resistance gene, Cd36, and susceptibility to type 2 diabetes. DIABETES, 48, A406-A406. Author URL.
Frayling T, Ellard S, Grove J, Walker M, Hattersley AT (1998). C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet, 351(9120), 1933-1934. Author URL.
Frayling T, Ellard S, Ayres S, Ayres R, Hattersley AT (1998). Haemochromatosis and type 2 diabetes - Reply. LANCET, 352(9133), 1068-1068. Author URL.
Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT (1998). Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes, 47(7), 1152-1154. Author URL.
Frayling T, Beards F, Bulman M, Appleton M, Ellard S, Hattersley AT (1998). Mutations in the hepatocyte nuclear factor 1-beta (HNF-1 beta) gene are not a common cause of UK maturity onset diabetes of the young (MODY). DIABETES, 47, A173-A173. Author URL.
Hattersley A, Appleton M, Ellard S, Frayling T, Bulman M, Tack C, Clark P (1998). Phenotypic determinants in hepatocyte nuclear factor 1 alpha (HNf1 alpha) mutations. DIABETES, 47, A179-A179. Author URL.
Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT (1997). A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. Diabetologia, 40(7), 859-862. Abstract.  Author URL.
Frayling T, Bulman M, Ellard S, Appleton M, Dronsfield MJ, Bain SC, Bell GI, Hattersley AT (1997). A mutational hotspot in the poly-C tract of exon 4 of the hepatic nuclear factor 1alpha gene; Screening in Maturity Onset Diabetes of the Young. DIABETOLOGIA, 40, 18-18. Author URL.
Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S (1997). A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum Genet, 101(3), 351-354. Abstract.  Author URL.
Appleton M, Ellard S, Bulman M, Frayling T, Page R, Hattersley AT (1997). Clinical characteristics of HNF1 alpha (MODY3) and glucokinase mutations. DIABETOLOGIA, 40, 628-628. Author URL.
Hattersley AT, Appleton M, Smith SM, Burrows JA, Ellard S, Frayling T, Bulman M, Clark PM (1997). Hepatic nuclear factor 1 alpha mutations result in beta-cell dysfunction. DIABETOLOGIA, 40, 634-634. Author URL.
Frayling T, Bulman M, Ellard S, Appleton M, Dronsfield M, Bain S, Hattersley A (1997). Hepatic nuclear factor 1-alpha (HNF-1 alpha) gene mutations are the commonest cause of maturity onset diabetes of the young in the UK. DIABETES, 46, 683-683. Author URL.
Ellard S, Bulman MP, Frayling TM, Beards FE, Appleton M, Hattersley AT (1997). Mutation analysis in maturity-onset diabetes of the young (MODY). JOURNAL OF MEDICAL GENETICS, 34, SP15-SP15. Author URL.
Bulman MP, Frayling T, Ellard S, Appleton M, Dronsfield MJ, Bell GI, Bain SC, Hattersley AT (1997). Mutations in the hepatic nuclear factor 1 alpha in maturity-onset diabetes of the young. DIABETOLOGIA, 40, 618-618. Author URL.
Frayling TM, Bulamn MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, et al (1997). Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes, 46(4), 720-725. Abstract.  Author URL.

Conferences

van Leeuwen N, Wood AR, Jackson A, Jonsson A, Wang N, Smith U, Vilarino LB, Stancakova A, Walker M, Hanson R, et al (2015). A genome wide association study of IVGTT based measures of first phase insulin secretion reveals new physiology of known and novel variants.  Author URL.
Sapin E, Keedwell EC, Frayling T (2014). Ant Colony Optimisation of Decision Trees for the Detection of Gene-Gene Interactions. IEEE International Conference on Bioinformatics and Biomedicine. 2nd - 5th Nov 2014.
Scott RA, Pasko D, Fall T, Yaghootkar H, Barker A, Sharp SJ, Walker M, Wareham NJ, Ingelsson E, Frayling T, et al (2013). A genetic risk score comprising common variants associated with fasting insulin is associated with OGTT- and clamp-based indices of whole body insulin sensitivity.  Author URL.
Sapin E, Keedwell E, Frayling T (2013). Ant Colony Optimisation for Exploring Logical Gene-Gene Associations in Genome Wide Association Studies.  Author URL.  Full text.
Elliott HR, Tillin T, Chaturvedi N, Hughes AD, McArdle W, Smith GD, Frayling TM, Ebrahim S, Relton CL (2013). DNA methylation, cardio metabolic risk and type 2 diabetes in south Asians and Europeans.  Author URL.
Knowles JW, Hao K, Xie W, Weedon MN, Zhang Z, Paaanen J, Goodarzi MO, Hansson O, Pankow JS, Chenemsetty I, et al (2013). Genetic and Functional Analyses Identify NAT2 as a Human Insulin Sensitivity Gene.  Author URL.
Alkayyali S, Hindy G, Akerlund M, Lajer M, Pasko D, Hattersley A, Frayling T, Rossing P, Groop L, Orho-Melander M, et al (2013). KCNJ11 E23K polymorphism increases susceptibility for cardiovascular mortality in patients with type 2 diabetes.  Author URL.
Sapin E, Keedwell EC, Frayling T (2013). Subset-Based Ant Colony Optimisation for the Discovery of Gene-Gene Interactions in Genome Wide Association Studies. Genetic and Evolutionary Computation Conference. 5th - 10th Jul 2013. Full text.
Islam M, Jafar T, Wood A, De Silva M, Caulfield M, Chaturvedi N, Frayling T (2012). Genetic risk scores are associated with diabetes related traits in South Asians and provide tools for Mendelian randomization studies.  Author URL.
Ellard S, Allen HL, Johansson S, Hertel JK, Shields B, Raeder H, Colclough K, Molven A, Frayling TM, Njolstad PR, et al (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.  Author URL.
Webster RJ, Warrington NM, Weedon MN, Hattersley AT, Beilby JP, Frayling TM, Palmer LJ (2009). The Longitudinal Association of Common Susceptibility Variants for Type 2 Diabetes and Obesity with Fasting Plasma Glucose and BMI.  Author URL.
Perry JRB, Melzer D, Maggio M, Hernandez D, Singleton A, Ferrucci L, Palmer C, Bennett A, Ruokonen A, Panicker V, et al (2008). A Mendelian randomisation study provides initial evidence that sex hormone binding globulin (SHBG) levels alter type 2 diabetes risk.  Author URL.
Mccarthy MI, Zeggini E, Jafarmohammad B, Timpson NJ, Frayling TM, Weedon MN, Elliott KS, Lingdren CM, Lango H, Perry JR, et al (2008). Analysis of overlap between type 2 diabetes signals identified through genome-wide linkage and association approaches.  Author URL.
Hattersley AT, Freathy RM, Bennett AI, Ring SM, Timpson NJ, Pouta A, Ruokonen A, Hypponen E, Power C, Elliott P, et al (2008). Direct evidence to support the fetal insulin hypothesis as the type 2 diabetes risk alleles at the CDKALI and HHEX-IDE gene loci reduce birth weight.  Author URL.
Frayling TM, Rafiq S, Melzer D, Maggio M, Paulisso G, Hernandez D, Singleton A, Zeggini E, Morris A, Palmer CN, et al (2008). Evidence that common genetic variation altering sex hormone binding globulin levels influences type 2 diabetes risk.  Author URL.
Zeggini E, Lawrence R, Hattersley AT, Frayling TM, Elliott KS, McCarthy MI, Control WTC (2008). Extended analysis of genome-wide scans provides clues about novel common and rare susceptibility loci for type 2 diabetes.  Author URL.
Morris A, Prokopenko I, Akan P, Lango H, Frayling TM, Deloukas P, Hattersley AT, McCarthy MI (2008). Fine-mapping T2D causal variants on chromosome 9p21 in 2000 UK cases and 3000 unselected controls.  Author URL.
Morris A, Prokopenko I, Akan P, Lango H, Zeggini E, Frayling TM, Deloukas P, Hattersley AT, McCarthy MI (2008). Fine-mapping type 2 diabetes causal variants on chromosome 9p21 in 2000 UK cases and 3000 unselected controls.  Author URL.
Rafiq S, Melzer D, Weedon MN, Zeggini E, Lindgren CM, Lango H, Hattersley AT, McCarthy MI, Frayling TM, Diabetes WTCCCUKT2, et al (2008). Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases do not alter the risk of type 2 diabetes.  Author URL.
Mohammadi BJ, Groves CJ, Herrera B, Frayling TM, Hattersley AT, Gloyn AL, McCarthy MI (2008). Large-scale type 2 diabetes association analysis of low-frequency nonsynonymous coding variants in the HNF4A gene including up to 17,600 individuals.  Author URL.
Fernandez-Cadenas I, Prokopenko I, Timpson NJ, Boraska V, Rayner NW, Hattersley AT, Frayling TM, Zeggini E, Lindgren CM, McCarthy MI, et al (2008). Stratified analysis of the Wellcome Trust Case Control Consortium scan for type 2 diabetes reveals susceptibility loci that may affect age of diagnosis.  Author URL.
Elliott KS, Zeggini E, Rayner N, Groves C, Frayling T, Hattersley A, McCarthy MI, Replication DG (2008). Studies of genome-wide association data support a genetic overlap between type 2 diabetes and prostate cancer.  Author URL.
Elliott K, Zeggini E, Rayner N, Groves C, Frayling T, Hattersley A, Mccarthy M, FUSION, DGI, Consorti UKT2DG, et al (2008). The genetic relationship between T2D and cancer risk: Evidence of pleiotropy from genomewide association studies.  Author URL.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Zeggini E, Weedon MN, Lango H, Pouta A, et al (2008). Type 2 diabetes risk alleles at the CDKAL1 and HHEX-IDE gene loci reduce birth weight, providing direct evidence to support the fetal insulin hypothesis.  Author URL.
Lango H, Weedon MN, Timpson NJ, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Rayner NW, Groves CJ, et al (2007). A common variant in the FTO gene region is associated with BMI in the general population and predisposes to adult and childhood obesity.  Author URL.
Rayner W, Groves CJ, Powell B, Hitman GA, Walker M, Elliott K, Weedon MN, Frayling TM, Hattersley AT, Lindgren CM, et al (2007). Analysis of insulin gene variants in 5663 UK subjects provides evidence of a modest effect on T2D risk.  Author URL.
Weedon MN, Perry JRB, Zeggini E, Lango H, Lindgren CM, Freathy R, Elliot KS, Shields B, Timpson NJ, Rayner NW, et al (2007). Biological pathway analysis for type 2 diabetes using genome-wide association data.  Author URL.
Bennett AJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Sovio U, Timpson NJ, Ruokonen A, Martikainen H, Pouta A, et al (2007). Common variation in the FTO (fused toes) gene is strongly associated with adiposity measures in the northern finnish birth cohort of 1966.  Author URL.
Zeggini E, Weedon MN, Lindgren CM, Lango H, Timpson NJ, Rayner NW, Elliott K, Groves CJ, Perry J, Hitman GA, et al (2007). Genome-wide association analysis in UK subjects provides evidence for a novel type 2 diabetes susceptibility gene in the CDKAL1 region of chromosome 6.  Author URL.
Zeggini E, Weedon M, Timpson N, Frayling T, Elliott K, Rayner W, Lindgren C, Hattersley A, McCarthy M (2007). Genome-wide association and replication analyses in UK subjects reveal multiple novel type 2 diabetes susceptibility loci.  Author URL.
Timpson NJ, Zeggini E, Weedon MN, Lingdren CM, Frayling TM, Elliott KS, Lango H, Perry JRB, Rayner NW, Freathy RM, et al (2007). Genome-wide association data highlight an aetiological role for disturbances in cyclin-dependent kinase pathways in type 2 diabetes.  Author URL.
Bell JT, Elliot K, Morris A, Groves CJ, Fiddy SE, Frayling TM, Hattersley AT, Walker M, Hitman GA, McCarthy MI, et al (2007). Genome-wide search for multiple loci in type 2 diabetes.  Author URL.
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, et al (2007). Large-scale replication typing of modest signals from genome-wide association studies identifies additional type 2 diabetes susceptibility variants in the IGF2BP2 and VEGFA genes.  Author URL.
Weedon MN, Zeggini E, Lango H, Lindgren CM, Perry J, Timpson NJ, Rayner NW, Elliott K, Groves CJ, Morris AP, et al (2007). The first UK type 2 diabetes genome-wide association study identifies a gene that contributes to type 2 diabetes risk: FTO.  Author URL.
Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann R, Blech I, et al (2007). WFS1 is a type 2 diabetes susceptibility gene.  Author URL.
Owen KR, Groves CJ, Zeggini E, Hitman G, Walker M, Frayling TM, Hattersley AT, McCarthy MI (2006). Common variation in the LMNA gene increases susceptibility to type 2 diabetes.  Author URL.
Porter JR, Ehtisham S, Clark P, Hattersley A, Frayling TM, Barrett TG (2006). Differentiating type 1, type 2 and MODY in childhood.  Author URL.
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, et al (2006). Large scale case-control and family-based analyses of TCF7L2 variants in > 6000 UK subjects demonstrates an almost two-fold difference in relative risk between homozygote classes.  Author URL.
Gloyn AL, MacKay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Sampson M, Knight BA, Levy JC, Owen KR, et al (2005). Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region in type 2 diabetes: a comparative genomic and haplotype approach.  Author URL.
Gloyn AL, MacKay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Sampson M, Knight BA, Hattersley AT, Frayling TM, et al (2005). Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region on chromosome 6q24 in type 2 diabetes: a comparative genomic and haplotype approach.  Author URL.
Zeggini E, Parkinson J, Groves CJ, Frayling TM, Hitman GA, Walker M, Sampson M, Levy JC, Weedon MN, Wiltshire S, et al (2004). Large-scale association studies of candidate genes and their interactions in Type 2 diabetes.  Author URL.
McCarthy MI, Parkinson J, Groves CJ, Frayling TM, Hitman GA, Walker M, Weedon MN, Wiltshire S, Owen KR, Hattersley AT, et al (2004). Large-scale association studies of candidate genes in insulin action: Confirmation of type 2 diabetes susceptibility effects at PPARG and evidence for association at TNF/LTA locus.  Author URL.
Frayling TM, Weedon M, Shields B, Knight B, Wilkin T, Voss L, Metcalf B, Davey-Smith G, Ben-Shiomo Y, Leon D, et al (2003). A Common haplotype in the glucokinase gene is associated with increased fasting glucose and altered birth weight.  Author URL.
Hattersley AT, Weedon MN, Knight B, Turner M, Metcalf B, Voss L, Wilkin T, Frayling TM (2003). Common genetic variation in glucokinase is associated with increased fasting glucose and altered birth weight: Evidence for the fetal insulin hypothesis.  Author URL.
Dolwani S, Sampson J, Jones S, Eccks D, Ellis A, Evans G, Frayling T, Mak T, Pigatto F, Jordan S, et al (2003). MYH polyposis: a new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair - Reappraisal of genetic risk and family management.  Author URL.
Owen K, Frayling T, Hattersley A, Consortium W2 (2003). The insulin promoter factor-1 polymorphism D76N predisposes to type 2 diabetes.  Author URL.
Gloyn AL, Mackay DJG, Shield JP, Temple IK, Robinson DO, Walker M, McCarthy MI, Frayling TM, Hattersley AT (2002). Analysis of the imprinted transient neonatal diabetes critical region (ZAC/HYMAI) locus in Type 2 diabetes parent-offspring trios.  Author URL.
Groves CJ, Wiltshire S, Menzel S, Bennett A, Hattersley AT, Frayling TM, Walker M, Levy JC, O'Rahilly S, Hitman GA, et al (2002). Linkage studies of the Type 2 diabetes susceptibility locus on chromosome 1q: Combined analysis of 1200 UK and French affected sibpairs.  Author URL.
Frayling T, Thomson K, Colclough K, Ellard S, Hettersley AT (2002). Reduced haplotype diversity at the gene encoding Hepatocyte Nuclear Factor 1 alpha.  Author URL.
Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, et al (2001). beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.  Abstract.  Author URL.
Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT, et al (2001). beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.  Abstract.  Author URL.
Hattersley AT, Ellard S, Shepherd M, Frayling TM, Bulman M, Ballantyne L, Ayres S (2000). Phenotype-genotype relationships in maturity-onset diabetes of the young.  Author URL.

Publications by year


In Press

Jones SE, Tyrrell J, Wood AR, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Hu Y, Teder-Laving M, Hayward C, et al (In Press). Genome-wide association analyses in 128,266 individuals identifies new morningness and sleep duration loci. PLoS Genetics Full text.
Frayling TM, Tyrrell J (In Press). Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. British Medical Journal Full text.

2016

Scott RA, Freitag DF, Li L, Chu AY, Surendran P, Young R, Grarup N, Stancáková A, Chen Y, Varga TV, et al (2016). A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Sci Transl Med, 8(341). Abstract.  Author URL.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, et al (2016). A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet, 48(10), 1279-1283. Abstract.  Author URL.  Full text.
Frayling TM, Tyrrell J (2016). Authors' reply to Toth. BMJ, 353 Author URL.
Pitt A, Knight BA, Hudson M, Beall L, Hattersley AT, Jones AG, Frayling TM (2016). Evaluating the Exeter Glucose Potentiated Arginine Insulin Secretion (E-GPAIS) test for recruit by genotype studies. DIABETIC MEDICINE, 33, 29-29. Author URL.
Lee BP, Lloyd-Laney HO, Locke JM, McCulloch LJ, Knight B, Yaghootkar H, Cory G, Kos K, Frayling TM, Harries LW, et al (2016). Functional characterisation of ADIPOQ variants using individuals recruited by genotype. Mol Cell Endocrinol, 428, 49-57. Abstract.  Author URL.
Tyrrell J, Richmond RC, Palmer TM, Feenstra B, Rangarajan J, Metrustry S, Cavadino A, Paternoster L, Armstrong LL, De Silva NMG, et al (2016). Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. JAMA, 315(11), 1129-1129. Full text.
Yaghootkar H, Lotta LA, Tyrrell J, Smit RAJ, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, et al (2016). Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease. Diabetes, 65(8), 2448-2460. Abstract.  Author URL.  Full text.
Ruth KS, Beaumont RN, Tyrrell J, Jones SE, Tuke MA, Yaghootkar H, Wood AR, Freathy RM, Weedon MN, Frayling TM, et al (2016). Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health. Hum Reprod, 31(2), 473-481. Abstract.  Author URL.  Full text.
Kilpeläinen TO, Carli JFM, Skowronski AA, Sun Q, Kriebel J, Feitosa MF, Hedman ÅK, Drong AW, Hayes JE, Zhao J, et al (2016). Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels. Nat Commun, 7 Abstract.  Author URL.
Frayling TM, Tyrrell J (2016). HEIGHT, BODY MASS INDEX, AND SOCIOECONOMIC STATUS Conclusions of study on height, body mass index, and socioeconomic status have an uncertain basis Reply. BMJ-BRITISH MEDICAL JOURNAL, 353 Author URL.  Full text.
Pilling LC, Atkins JL, Bowman K, Jones SE, Tyrrell J, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Wood AR, et al (2016). Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. Aging (Albany NY), 8(3), 547-560. Abstract.  Author URL.
Scelo G, Hofmann JN, Banks RE, Bigot P, Bhatt RS, Cancel-Tassin G, Chew SK, Creighton CJ, Cussenot O, Davis IJ, et al (2016). International cancer seminars: a focus on kidney cancer. Ann Oncol, 27(8), 1382-1385. Abstract.  Author URL.
Lessard S, Manning AK, Low-Kam C, Auer PL, Giri A, Graff M, Schurmann C, Yaghootkar H, Luan J, Esko T, et al (2016). Testing the role of predicted gene knockouts in human anthropometric trait variation. Hum Mol Genet, 25(10), 2082-2092. Abstract.  Author URL.
Wood AR, Tyrrell J, Beaumont R, Jones SE, Tuke MA, Ruth KS, GIANT consortium, Yaghootkar H, Freathy RM, Murray A, et al (2016). Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively. Diabetologia, 59(6), 1214-1221. Abstract.  Author URL.  Full text.

2015

van Leeuwen N, Wood AR, Jackson A, Jonsson A, Wang N, Smith U, Vilarino LB, Stancakova A, Walker M, Hanson R, et al (2015). A genome wide association study of IVGTT based measures of first phase insulin secretion reveals new physiology of known and novel variants.  Author URL.
van der Valk RJP, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, et al (2015). A novel common variant in DCST2 is associated with length in early life and height in adulthood. Hum Mol Genet, 24(4), 1155-1168. Abstract.  Author URL.
Sapin E, Keedwell E, Frayling T (2015). An Ant Colony Optimization and Tabu List Approach to the Detection of Gene-Gene Interactions in Genome-Wide Association Studies [Research Frontier]. IEEE Computational Intelligence Magazine, 10(4). Abstract.  Full text.
Sapin E, Frayling T, Keedwell EC (2015). Ant colony optimisation of decision tree and contingency table models for the discovery of gene–gene interactions. IET Systems Biology
Yaghootkar H, Stancáková A, Freathy RM, Vangipurapu J, Weedon MN, Xie W, Wood AR, Ferrannini E, Mari A, Ring SM, et al (2015). Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion. Diabetes, 64(6), 2279-2285. Abstract.  Author URL.  Full text.
Pers TH, Karjalainen JM, Chan Y, Westra H-J, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, et al (2015). Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun, 6 Abstract.  Author URL.
Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, et al (2015). Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals. Hum Mol Genet, 24(12), 3582-3594. Abstract.  Author URL.
Moore AZ, Ding J, Tuke MA, Wood A, Melzer D, Bandinelli S, Frayling T, Ferrucci L (2015). DISTRIBUTION OF MITOCHONDRIAL DNA HETEROPLASMY IN PARTICIPANTS OF THE INCHIANTI STUDY. GERONTOLOGIST, 55, 67-67. Author URL.
Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, et al (2015). Directional dominance on stature and cognition in diverse human populations. Nature, 523(7561), 459-462. Abstract.  Author URL.
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, Rayner NW, Robertson N, et al (2015). Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics, 47(12), 1415-1425. Abstract.
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, Rayner NW, Robertson N, et al (2015). Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet, 47(12), 1415-1425. Abstract.  Author URL.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, et al (2015). Genetic studies of body mass index yield new insights for obesity biology. Nature, 518(7538), 197-206. Abstract.  Author URL.  Full text.
Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, Locke AE, Grarup N, Im HK, Cingolani P, et al (2015). Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus. PLoS Genetics, 11(1). Abstract.
Knowles JW, Xie W, Zhang Z, Chennemsetty I, Assimes TL, Paananen J, Hansson O, Pankow J, Goodarzi MO, Carcamo-Orive I, et al (2015). Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. Journal of Clinical Investigation, 125(4), 1739-1751. Abstract.  Full text.
Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert M-F, Raghavan S, Lipovich L, et al (2015). Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun, 6 Abstract.  Author URL.  Full text.
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, et al (2015). New genetic loci link adipose and insulin biology to body fat distribution. Nature, 518(7538), 187-196. Abstract.  Author URL.  Full text.
Robinson MR, Hemani G, Medina-Gomez C, Mezzavilla M, Esko T, Shakhbazov K, Powell JE, Vinkhuyzen A, Berndt SI, Gustafsson S, et al (2015). Population genetic differentiation of height and body mass index across Europe. Nature Genetics, 47(11), 1357-1361. Abstract.
Robinson MR, Hemani G, Medina-Gomez C, Mezzavilla M, Esko T, Shakhbazov K, Powell JE, Vinkhuyzen A, Berndt SI, Gustafsson S, et al (2015). Population genetic differentiation of height and body mass index across Europe. Nature Genetics Abstract.
Frayling TM (2015). Statins and type 2 diabetes: genetic studies on target. Lancet, 385(9965), 310-312. Author URL.  Full text.
Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, et al (2015). Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nature Genetics, 47(8), 921-925. Abstract.
Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, et al (2015). Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nat Genet, 47(8), 921-925. Abstract.  Author URL.
Boquete Vilariño L, Frayling TM (2015). The Hunt for Low-Frequency Alleles Predisposing to Type 2 Diabetes and Related Cardiovascular Risk Factors. Current Cardiovascular Risk Reports, 9(11). Abstract.
Fall T, Xie W, Poon W, Yaghootkar H, Mägi R, GENESIS Consortium, Knowles JW, Lyssenko V, Weedon M, Frayling TM, et al (2015). Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes. Diabetes, 64(7), 2676-2684. Abstract.  Author URL.  Full text.
Wood AR, Tuke MA, Nalls M, Hernandez D, Gibbs JR, Lin H, Xu CS, Li Q, Shen J, Jun G, et al (2015). Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. Hum Mol Genet, 24(5), 1504-1512. Abstract.  Author URL.  Full text.

2014

Prokopenko I, Poon W, Mägi R, Prasad B R, Salehi SA, Almgren P, Osmark P, Bouatia-Naji N, Wierup N, Fall T, et al (2014). A central role for GRB10 in regulation of islet function in man. PLoS Genet, 10(4). Abstract.  Author URL.
Ghanbari M, de Vries PS, de Looper H, Peters MJ, Schurmann C, Yaghootkar H, Dörr M, Frayling TM, Uitterlinden AG, Hofman A, et al (2014). A genetic variant in the seed region of miR-4513 shows pleiotropic effects on lipid and glucose homeostasis, blood pressure, and coronary artery disease. Hum Mutat, 35(12), 1524-1531. Abstract.  Author URL.
Wood AR, Tuke MA, Nalls MA, Hernandez DG, Bandinelli S, Singleton AB, Melzer D, Ferrucci L, Frayling TM, Weedon MN, et al (2014). Another explanation for apparent epistasis. Nature, 514(7520), E3-E5. Author URL.
Sapin E, Keedwell EC, Frayling T (2014). Ant Colony Optimisation of Decision Trees for the Detection of Gene-Gene Interactions. IEEE International Conference on Bioinformatics and Biomedicine. 2nd - 5th Nov 2014.
Vimaleswaran KS, Cavadino A, Berry DJ, Power C, Hyppönen E, Jorde R, Grimnes G, Dieff enbach AK, Schöttker B, Saum KU, et al (2014). Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study. The Lancet Diabetes and Endocrinology, 2(9), 719-729. Abstract.
Vimaleswaran KS, Cavadino A, Berry DJ, LifeLines Cohort Study investigators, Jorde R, Dieffenbach AK, Lu C, Alves AC, Heerspink HJL, Tikkanen E, et al (2014). Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study. Lancet Diabetes Endocrinol, 2(9), 719-729. Abstract.  Author URL.
Scott RA, Fall T, Pasko D, Barker A, Sharp SJ, Arriola L, Balkau B, Barricarte A, Barroso I, Boeing H, et al (2014). Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity. Diabetes, 63(12), 4378-4387. Abstract.  Author URL.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, et al (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics, 46(11), 1173-1186. Abstract.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, et al (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet, 46(11), 1173-1186. Abstract.  Author URL.  Full text.
Elliott HR, Tillin T, McArdle WL, Ho K, Duggirala A, Frayling TM, Smith GD, Hughes AD, Chaturvedi N, Relton CL, et al (2014). Differences in smoking associated DNA methylation patterns in South Asians and Europeans. CLINICAL EPIGENETICS, 6 Author URL.  Full text.
Hassanali N, De Silva NMG, Robertson N, Rayner NW, Barrett A, Bennett AJ, Groves CJ, Matthews DR, Katulanda P, Frayling TM, et al (2014). Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent. PLoS One, 9(6). Abstract.  Author URL.
Yaghootkar H, Scott RA, White CC, Zhang W, Speliotes E, Munroe PB, Ehret GB, Bis JC, Fox CS, Walker M, et al (2014). Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes. Diabetes, 63(12), 4369-4377. Abstract.  Author URL.  Full text.
Frayling TM (2014). Genome-wide association studies: the good, the bad and the ugly. Clin Med (Lond), 14(4), 428-431. Author URL.
Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MCY, Prokopenko I, et al (2014). Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NATURE GENETICS, 46(3), 234-+. Author URL.
Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R, Roef GL, Plantinga TS, Vermeulen SH, et al (2014). Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genet, 10(2). Abstract.  Author URL.  Full text.
Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, Tšernikova N, Luan J, et al (2014). Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. PLoS Genet, 10(7). Abstract.  Author URL.
Frayling TM, Hattersley AT (2014). Physiology helps GWAS take a step closer to mechanism. Diabetes, 63(6), 1836-1837. Author URL.  Full text.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, Manning AK, Hartl C, Agarwala V, et al (2014). Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proceedings of the National Academy of Sciences of the United States of America, 111(36), 13127-13132. Abstract.
Taylor AE, Morris RW, Fluharty ME, Bjorngaard JH, Åsvold BO, Gabrielsen ME, Campbell A, Marioni R, Kumari M, Hällfors J, et al (2014). Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers. PLoS Genet, 10(12). Abstract.  Author URL.

2013

Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, et al (2013). A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function. PLoS Genetics, 9(2). Abstract.  Full text.
Thorgeirsson TE, Gudbjartsson DF, Sulem P, Besenbacher S, Styrkarsdottir U, Thorleifsson G, Walters GB, Furberg H, Sullivan PF, Marchini J, et al (2013). A common biological basis of obesity and nicotine addiction. Translational Psychiatry, 3, 1-7. Abstract.
Scott RA, Pasko D, Fall T, Yaghootkar H, Barker A, Sharp SJ, Walker M, Wareham NJ, Ingelsson E, Frayling T, et al (2013). A genetic risk score comprising common variants associated with fasting insulin is associated with OGTT- and clamp-based indices of whole body insulin sensitivity.  Author URL.
Sapin E, Keedwell E, Frayling T (2013). Ant Colony Optimisation for Exploring Logical Gene-Gene Associations in Genome Wide Association Studies.  Author URL.  Full text.
Menni C, Fauman E, Erte I, Perry JRB, Kastenmüller G, Shin SY, Petersen AK, Hyde C, Psatha M, Ward KJ, et al (2013). Biomarkers for type 2 diabetes and impaired fasting glucose using a nontargeted metabolomics approach. Diabetes, 62(12), 4270-4276. Abstract.
Vimaleswaran KS, Berry DJ, Lu C, Tikkanen E, Pilz S, Hiraki LT, Cooper JD, Dastani Z, Li R, Houston DK, et al (2013). Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts. PLoS Medicine, 10(2). Abstract.  Full text.
Elliott HR, Tillin T, Chaturvedi N, Hughes AD, McArdle W, Smith GD, Frayling TM, Ebrahim S, Relton CL (2013). DNA methylation, cardio metabolic risk and type 2 diabetes in south Asians and Europeans.  Author URL.
Albrechtsen A, Grarup N, Li Y, Sparso T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, et al (2013). Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. DIABETOLOGIA, 56(2), 298-310. Author URL.
Knowles JW, Hao K, Xie W, Weedon MN, Zhang Z, Paaanen J, Goodarzi MO, Hansson O, Pankow JS, Chenemsetty I, et al (2013). Genetic and Functional Analyses Identify NAT2 as a Human Insulin Sensitivity Gene.  Author URL.
Xie W, Wood AR, Lyssenko V, Weedon MN, Knowles JW, Alkayyali S, Assimes TL, Quertermous T, Abbasi F, Paananen J, et al (2013). Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. Diabetes, 62(6), 2141-2150. Abstract.  Author URL.
Crosslin DR, McDavid A, Weston N, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, et al (2013). Genetic variation associated with circulating monocyte count in the eMERGE Network. Human Molecular Genetics, 22(10), 2119-2127. Abstract.
Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, et al (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics, 45(5), 501-512. Abstract.
Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, et al (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics
Wood AR, Perry JRB, Tanaka T, Hernandez DG, Zheng H-F, Melzer D, Gibbs JR, Nalls MA, Weedon MN, Spector TD, et al (2013). Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. PLoS One, 8(5). Abstract.  Author URL.  Full text.
Alkayyali S, Hindy G, Akerlund M, Lajer M, Pasko D, Hattersley A, Frayling T, Rossing P, Groop L, Orho-Melander M, et al (2013). KCNJ11 E23K polymorphism increases susceptibility for cardiovascular mortality in patients with type 2 diabetes.  Author URL.
Yaghootkar H, Lamina C, Scott RA, Dastani Z, Hivert M-F, Warren LL, Stancakova A, Buxbaum SG, Lyytikaeinen L-P, Henneman P, et al (2013). Mendelian Randomization Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes. DIABETES, 62(10), 3589-3598. Author URL.
Yaghootkar H, Lamina C, Scott R, Dastani Z, Hivert MF, Lawlor D, Meigs J, Richards B, Frayling T, Consortium A, et al (2013). Mendelian randomisation studies do not support a causal role for reduced circulating adiponectin levels in fasting based measures of insulin resistance and Type 2 diabetes. DIABETIC MEDICINE, 30, 30-30. Author URL.
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, et al (2013). New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics, 45(1), 76-82. Abstract.  Full text.
Tyrrell JS, Yaghootkar H, Freathy RM, Hattersley AT, Frayling TM (2013). Parental diabetes and birthweight in 236 030 individuals in the UK biobank study. Int J Epidemiol, 42(6), 1714-1723. Abstract.  Author URL.  Full text.
Pennell CE, Vadillo-Ortega F, Olson DM, Ha E-H, Williams S, Frayling TM, Dolan S, Katz M, Merialdi M, Menon R, et al (2013). Preterm Birth Genome Project (PGP) - validation of resources for preterm birth genome-wide studies. JOURNAL OF PERINATAL MEDICINE, 41(1), 45-49. Author URL.
Yaghootkar H, Frayling TM (2013). Recent progress in the use of genetics to understand links between type 2 diabetes and related metabolic traits. Genome Biol, 14(3). Abstract.  Author URL.
Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU, Monda KL, Kilpeläinen TO, Esko T, Mägi R, Li S, et al (2013). Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits. PLoS Genetics, 9(6). Abstract.
Sapin E, Keedwell EC, Frayling T (2013). Subset-Based Ant Colony Optimisation for the Discovery of Gene-Gene Interactions in Genome Wide Association Studies. Genetic and Evolutionary Computation Conference. 5th - 10th Jul 2013. Full text.
Westra H-J, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, et al (2013). Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics
Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, et al (2013). Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics, 45(10), 1238-1243. Abstract.
Morrison FS, Locke JM, Wood AR, Tuke M, Pasko D, Murray A, Frayling T, Harries LW (2013). The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts. BMC Genomics, 14 Abstract.  Author URL.  Full text.

2012

Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, et al (2012). A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature Genetics, 44(6), 659-669. Abstract.
Coviello AD, Haring R, Wellons M, Vaidya D, Lehtimäki T, Keildson S, Lunetta KL, He C, Fornage M, Lagou V, et al (2012). A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple loci implicated in sex steroid hormone regulation. PLoS Genetics, 8(7). Abstract.  Full text.
Frayling TM (2012). Are the causes of obesity primarily environmental? No. BMJ, 345 Author URL.
Wilding J, Frayling TM (2012). Are the causes of obesity primarily environmental? Yes/No. BMJ (Online), 345(7875).
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Moller E, Bradfield JP, Freathy RM, et al (2012). Common variants at 12q15 and 12q24 are associated with infant head circumference. NATURE GENETICS, 44(5), 532-+. Author URL.
Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, et al (2012). Common variants at 6q22 and 17q21 are associated with intracranial volume. NATURE GENETICS, 44(5), 539-+. Author URL.
Yang J, Ferreira T, Morris AP, Medland SE, Madden PAF, Heath AC, Martin NG, Montgomery GW, Weedon MN, Loos RJ, et al (2012). Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nature Genetics, 44(4), 369-375. Abstract.
Warren LL, Li L, Nelson MR, Ehm MG, Shen J, Fraser DJ, Aponte JL, Nangle KL, Slater AJ, Woollard PM, et al (2012). Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation. Diabetes, 61(5), 1297-1301. Abstract.
Franceschini N, Van Rooij FJA, Prins BP, Feitosa MF, Karakas M, Eckfeldt JH, Folsom AR, Kopp J, Vaez A, Andrews JS, et al (2012). Discovery and fine mapping of serum protein loci through transethnic meta-analysis. American Journal of Human Genetics, 91(4), 744-753. Abstract.
Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, et al (2012). Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia, 1-13.
Yang J, Loos RJF, Powell JE, Medland SE, Speliotes EK, Chasman DI, Rose LM, Thorleifsson G, Steinthorsdottir V, Maegi R, et al (2012). FTO genotype is associated with phenotypic variability of body mass index. NATURE, 490(7419), 267-+. Author URL.
Islam M, Jafar T, Wood A, De Silva M, Caulfield M, Chaturvedi N, Frayling T (2012). Genetic risk scores are associated with diabetes related traits in South Asians and provide tools for Mendelian randomization studies.  Author URL.
Tyrrell J, Huikari V, Christie JT, Cavadino A, Bakker R, Brion M-JA, Geller F, Paternoster L, Myhre R, Potter C, et al (2012). Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight. Hum Mol Genet, 21(24), 5344-5358. Abstract.  Author URL.  Full text.
Boraska V, Day-Williams A, Franklin CS, Elliott KS, Panoutsopoulou K, Tachmazidou I, Albrecht E, Bandinelli S, Beilin LJ, Bochud M, et al (2012). Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts. PLoS ONE, 7(3). Abstract.
Boraska V, Jeroncic A, Colonna V, Southam L, Nyholt DR, William rayner N, Perry JRB, Toniolo D, Albrecht E, Ang W, et al (2012). Genome-wide meta-analysis of common variant differences between men and women. Human Molecular Genetics, 21(21), 4805-4815. Abstract.
Cauchi S, Perry J, Almgren P, Scott R, Langenberg C, Wareham N, Groop L, Frayling T, Froguel P, Consortium DIAGRAM, et al (2012). Identification of new genetic polymorphisms linked to type 2 diabetes risk in obese and non-obese Europeans. DIABETES & METABOLISM, 38, A61-A62. Author URL.
Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, et al (2012). Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genetics, 44(9), 981-990. Abstract.
Fall T, Xie W, Hao K, Arnlov J, Abbasi F, Schadt EE, Boran G, Hansen T, Greenawalt D, Nolan JJ, et al (2012). Mendelian Randomization Studies Do Not Support a Causal Effect of Plasma Lipids on Insulin Sensitivity. CIRCULATION, 126(21). Author URL.
Islam M, Jafar TH, Wood AR, De Silva NMG, Caulfield M, Chaturvedi N, Frayling TM (2012). Multiple genetic variants explain measurable variance in type 2 diabetes-related traits in Pakistanis. Diabetologia, 55(8), 2193-2204. Abstract.
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, et al (2012). New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics
Dastani Z, Hivert MF, Timpson N, Perry JRB, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, et al (2012). Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genetics, 8(3). Abstract.
Palmer CNA, Maglio C, Pirazzi C, Burza MA, Adiels M, Burch L, Donnelly LA, Colhoun H, Doney AS, Dillon JF, et al (2012). Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant. PLoS ONE, 7(6). Abstract.
Winney B, Boumertit A, Day T, Davison D, Echeta C, Evseeva I, Hutnik K, Leslie S, Nicodemus K, Royrvik EC, et al (2012). People of the British Isles: Preliminary analysis of genotypes and surnames in a UK-control population. European Journal of Human Genetics, 20(2), 203-210. Abstract.
Perry JRB, Voight BF, Yengo L, Amin N, Dupuis J, Ganser M, Grallert H, Navarro P, Li M, Qi L, et al (2012). Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet, 8(5). Abstract.  Author URL.  Full text.
Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, et al (2012). The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits. PLoS Genetics, 8(8). Abstract.
Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JEL, Shah T, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, et al (2012). The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. The Lancet, 379(9822), 1214-1224. Abstract.

2011

Taylor PN, Panicker V, Sayers A, Shields B, Iqbal A, Bremner AP, Beilby JP, Leedman PJ, Hattersley AT, Vaidya B, et al (2011). A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement. Eur J Endocrinol, 164(5), 773-780. Abstract.  Author URL.  Full text.
Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, Stringham HM, Morris AP, Lauritzen T, Doney ASF, Morris AD, et al (2011). A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. DIABETOLOGIA, 54(1), 111-119. Author URL.
Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, Bradley DT, Burnand K, et al (2011). Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. American Journal of Human Genetics, 89(5), 619-627. Abstract.
Paternoster L, Howe LD, Tilling K, Weedon MN, Freathy RM, Frayling TM, Kemp JP, Smith GD, Timpson NJ, Ring SM, et al (2011). Adult height variants affect birth length and growth rate in children. Hum Mol Genet, 20(20), 4069-4075. Abstract.  Author URL.
Wood AR, Hernandez DG, Nalls MA, Yaghootkar H, Gibbs JR, Harries LW, Chong S, Moore M, Weedon MN, Guralnik JM, et al (2011). Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet, 20(20), 4082-4092. Abstract.  Author URL.  Full text.
Rees SD, Islam M, Hydrie MZI, Chaudhary B, Bellary S, Hashmi S, O'Hare JP, Kumar S, Sanghera DK, Chaturvedi N, et al (2011). An FTO variant is associated with Type 2 diabetes in South Asian populations after accounting for body mass index and waist circumference. Diabet Med, 28(6), 673-680. Abstract.  Author URL.
Christmas J, Keedwell E, Frayling T, Perry J (2011). Ant Colony Optimisation to identify Genetic Disease Association for Type 2 Diabetes. Information Sciences, 181(9), 1609-1622.
Timpson NJ, Nordestgaard BG, Harbord RM, Zacho J, Frayling TM, Tybjærg-Hansen A, Smith GD (2011). C-reactive protein levels and body mass index: Elucidating direction of causation through reciprocal Mendelian randomization. International Journal of Obesity, 35(2), 300-308. Abstract.
Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, et al (2011). Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. PLoS Genetics, 7(12). Abstract.
Zhai G, Teumer A, Stolk L, Perry JRB, Vandenput L, Coviello AD, Koster A, Bandinelli S, Bell JT, Bhasin S, et al (2011). EIGHT COMMON GENETIC VARIANTS ASSOCIATED WITH SERUM DHEAS LEVELS SUGGESTS a KEY ROLE IN AGEING MECHANISMS. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 49, S425-S425. Author URL.
Zhai G, Teumer A, Stolk L, Perry JRB, Vandenput L, Coviello AD, Koster A, Bell JT, Bhasin S, Eriksson J, et al (2011). Eight common genetic variants associated with serum dheas levels suggest a key role in ageing mechanisms. PLoS Genetics, 7(4). Abstract.
Pennell CE, Warrington NM, Mook-Kanamori D, Lye SJ, Newnham JP, Palmer LJ, Jaddoe VWV, Freathy RM, Jacobssen B, Holloway J, et al (2011). Genetic Basis for Gestation Length. REPRODUCTIVE SCIENCES, 18(3), 310A-310A. Author URL.
Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, et al (2011). Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature, 478(7367), 103-109. Abstract.
Freathy RM, Kazeem GR, Morris RW, Johnson PCD, Paternoster L, Ebrahim S, Hattersley AT, Hill A, Hingorani AD, Holst C, et al (2011). Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index. Int J Epidemiol, 40(6), 1617-1628. Abstract.  Author URL.
Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, et al (2011). Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes, 60(10), 2624-2634. Abstract.
Bell JT, Timpson NJ, Rayner NW, Zeggini E, Frayling TM, Hattersley AT, Morris AP, McCarthy MI (2011). Genome-wide association scan allowing for epistasis in type 2 diabetes. Ann Hum Genet, 75(1), 10-19. Abstract.  Author URL.
Kooner JS, Saleheen D, Sim X, Sehmi J, Zhang W, Frossard P, Been LF, Chia KS, Dimas AS, Hassanali N, et al (2011). Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nature Genetics, 43(10), 984-989. Abstract.
Yang J, Weedon MN, Purcell S, Lettre G, Estrada K, Willer CJ, Smith AV, Ingelsson E, O'Connell JR, Mangino M, et al (2011). Genomic inflation factors under polygenic inheritance. European Journal of Human Genetics, 19(7), 807-812. Abstract.
Harries LW, Hernandez D, Henley W, Wood AR, Holly AC, Bradley-Smith RM, Yaghootkar H, Dutta A, Murray A, Frayling TM, et al (2011). Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing. Aging Cell, 10(5), 868-878. Abstract.  Author URL.
Yaghootkar H, Hernandez D, Nalls M, Wood A, Gibbs R, Harries L, Chong S, Moore M, Guralnik J, Bandinell S, et al (2011). Identifying likely causal connections between gene expression levels using a Mendelian randomization approach. CLINICAL BIOCHEMISTRY, 44(13), S294-S294. Author URL.
De Silva NMG, Freathy RM, Palmer TM, Donnelly LA, Luan J, Gaunt T, Langenberg C, Weedon MN, Shields B, Knight BA, et al (2011). Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. Diabetes, 60(3), 1008-1018. Abstract.  Author URL.
Nalls MA, Couper DJ, Tanaka T, van Rooij FJA, Chen MH, Smith AV, Toniolo D, Zakai NA, Yang Q, Greinacher A, et al (2011). Multiple loci are associated with white blood cell phenotypes. PLoS Genetics, 7(6). Abstract.
Frayling TM, Ong K (2011). Piecing together the FTO jigsaw. GENOME BIOLOGY, 12(2). Author URL.
Frayling TM, Ong K (2011). Piecing together the FTO jigsaw. Genome Biol, 12(2). Abstract.  Author URL.
Pennell CE, Ang QW, Merialdi M, Williams S, Thorsen P, Katz M, Frayling TM, Olson D, Lye SJ, Vadillo-Ortega F, et al (2011). Preterm Birth Genome Project - Identification of Genetic Variants Associated with Spontaneous Preterm Birth. REPRODUCTIVE SCIENCES, 18(3), 266A-266A. Author URL.
Xie W, Frayling TM, Weedon MN (2011). Recent Progress in Identifying Genes Contributing to Type 2 Diabetes and Metabolic Syndrome. , 106-119.
Edghill EL, Khamis A, Weedon MN, Walker M, Hitman GA, McCarthy MI, Owen KR, Ellard S, T Hattersley A, Frayling TM, et al (2011). Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes. Diabet Med, 28(6), 681-684. Abstract.  Author URL.  Full text.

2010

Morris AP, Lindgren CM, Zeggini E, Timpson NJ, Frayling TM, Hattersley AT, McCarthy MI (2010). A powerful approach to sub-phenotype analysis in population-based genetic association studies. Genetic Epidemiology, 34(4), 335-343. Abstract.
Raffiq S, Frayling T, Vyse T, Cunninghame-Graham D, Eggleton P (2010). Assessing association of common variation in the C1q gene cluster with systemic lupus erythematosus. Clinical Experimental Immunology, 161(2), 284-289.
Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Mägi R, et al (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics, 42(11), 937-948. Abstract.
Heid IM, Henneman P, Hicks A, Coassin S, Winkler T, Aulchenko YS, Fuchsberger C, Song K, Hivert MF, Waterworth DM, et al (2010). Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: Results of genome-wide association analyses including 4659 European individuals. Atherosclerosis, 208(2), 412-420. Abstract.
Reiling E, Jafar-Mohammadi B, Van 'T Riet E, Weedon MN, Van Vliet-Ostaptchouk JV, Hansen T, Saxena R, Van Haeften TW, Arp PA, Das S, et al (2010). Genetic association analysis of LARS2 with type 2 diabetes. Diabetologia, 53(1), 103-110. Abstract.
Perry JRB, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, et al (2010). Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet, 19(3), 535-544. Abstract.  Author URL.
Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, et al (2010). Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nature Genetics, 42(2), 142-148. Abstract.
Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, et al (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-720. Abstract.
Furberg H, Kim Y, Dackor J, Boerwinkle E, Franceschini N, Ardissino D, Bernardinelli L, Mannucci PM, Mauri F, Merlini PA, et al (2010). Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nature Genetics, 42(5), 441-447. Abstract.
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, et al (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467(7317), 832-838. Abstract.  Author URL.
Freathy RM, Hayes MG, Urbanek M, Lowe LP, Lee H, Ackerman C, Frayling TM, Cox NJ, Dunger DB, Dyer AR, et al (2010). Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study: Common Genetic Variants in GCK and TCF7L2 Are Associated with Fasting and Postchallenge Glucose Levels in Pregnancy and with the New Consensus Definition of Gestational Diabetes Mellitus from the International Association of Diabetes and Pregnancy Study Groups. DIABETES, 59(10), 2682-2689. Author URL.
Bell CG, Finer S, Lindgren CM, Wilson GA, Rakyan VK, Teschendorff AE, Akan P, Stupka E, Down TA, Prokopenko I, et al (2010). Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus. PLoS ONE, 5(11). Abstract.
Boraska V, Rayner NW, Groves CJ, Frayling TM, Diakite M, Rockett KA, Kwiatkowski DP, Day-Williams AG, McCarthy MI, Zeggini E, et al (2010). Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes. BMC Medical Genetics, 11(1). Abstract.
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Ssteinthorsdottir V, Tthorleifsson G, Zillikens C, Sspeliotes EK, Mägi R, et al (2010). Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nature Genetics, 42(11), 949-960. Abstract.
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, et al (2010). New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet, 42(2), 105-116. Abstract.  Author URL.
De Silva NMG, Frayling TM (2010). Novel biological insights emerging from genetic studies of type 2 diabetes and related metabolic traits. Curr Opin Lipidol, 21(1), 44-50. Abstract.  Author URL.
Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, et al (2010). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes, 59(1), 266-271. Abstract.  Author URL.
Cluett C, Brayne C, Clarke R, Evans G, Matthews F, Rubinsztein DC, Huppert F, Llewellyn DJ, Rice N, Henley W, et al (2010). Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people. Neurobiol Aging, 31(9), 1563-1568. Abstract.  Author URL.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2010). Role of low frequency variants in HNF1A exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform a to susceptibility to Type 2 diabetes. IRISH JOURNAL OF MEDICAL SCIENCE, 179, 538-538. Author URL.
Webster RJ, Warrington NM, Beilby JP, Frayling TM, Palmer LJ (2010). The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI. BMC Medical Genetics, 11(1). Abstract.
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, et al (2010). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics, 42(7), 579-589. Abstract.
Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, et al (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet, 42(5), 430-435. Abstract.  Author URL.

2009

Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT (2009). A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet, 18(15), 2922-2927. Abstract.  Author URL.
Brent Richards J, Waterworth D, O'Rahilly S, Hivert MF, Loos RJF, Perry JRB, Tanaka T, Timpson NJ, Semple RK, Soranzo N, et al (2009). A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genetics, 5(12). Abstract.
Timpson NJ, Lindgren CM, Weedon MN, Randall J, Ouwehand WH, Strachan DP, Rayner NW, Walker M, Hitman GA, Doney ASF, et al (2009). Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes, 58(2), 505-510. Abstract.  Author URL.
Perry JRB, Ferrucci L, Bandinelli S, Guralnik J, Semba RD, Rice N, Melzer D, DIAGRAM Consortium, Saxena R, Scott LJ, et al (2009). Circulating beta-carotene levels and type 2 diabetes-cause or effect?. Diabetologia, 52(10), 2117-2121. Abstract.  Author URL.
Frayling TM (2009). Commentary: a new dawn for genetic epidemiology?. Int J Epidemiol, 38(4), 975-977. Author URL.
Langenberg C, Pascoe L, Mari A, Tura A, Laakso M, Frayling TM, Barroso I, Loos RJF, Wareham NJ, Walker M, et al (2009). Common genetic variation in the melatonin receptor 1B gene (MTNR1B) is associated with decreased early-phase insulin response. Diabetologia, 52(8), 1537-1542. Abstract.
Murray A, Cluett C, Bandinelli S, Corsi AM, Ferrucci L, Guralnik J, Singleton A, Frayling T, Melzer D (2009). Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Eur Heart J, 30(14), 1711-1719. Abstract.  Author URL.  Full text.
Panicker V, Saravanan P, Vaidya B, Evans J, Hattersley AT, Frayling TM, Dayan CM (2009). Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. J Clin Endocrinol Metab, 94(5), 1623-1629. Abstract.  Author URL.
Ferrucci L, Perry JRB, Matteini A, Perola M, Tanaka T, Silander K, Rice N, Melzer D, Murray A, Cluett C, et al (2009). Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Am J Hum Genet, 84(2), 123-133. Abstract.  Author URL.
Yajnik CS, Janipalli CS, Bhaskar S, Kulkarni SR, Freathy RM, Prakash S, Mani KR, Weedon MN, Kale SD, Deshpande J, et al (2009). FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians. Diabetologia, 52(2), 247-252. Abstract.  Author URL.
Hennig BJ, Fulford AJ, Sirugo G, Rayco-Solon P, Hattersley AT, Frayling TM, Prentice AM (2009). FTO gene variation and measures of body mass in an African population. BMC Med Genet, 10 Abstract.  Author URL.
Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, et al (2009). Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution. PLoS Genetics, 5(6). Abstract.
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, et al (2009). Genome-wide association study identifies eight loci associated with blood pressure. Nature Genetics, 41(6), 666-676. Abstract.
Thomas K, Rafiq S, Frayling TM, Ebrahim S, Kumari M, Gallacher J, Ferrucci L, Bandinelli S, Wallace RB, Melzer D, et al (2009). Interleukin-18 polymorphism and physical functioning in older people: a replication study and meta-analysis. J Gerontol a Biol Sci Med Sci, 64(11), 1177-1182. Abstract.  Author URL.
Perry JRB, McCarthy MI, Hattersley AT, Zeggini E, Wellcome Trust Case Control Consortium, Weedon MN, Frayling TM (2009). Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes, 58(6), 1463-1467. Abstract.  Author URL.
Southam L, Soranzo N, Montgomery SB, Frayling TM, McCarthy MI, Barroso I, Zeggini E (2009). Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?. Diabetologia, 52(9), 1846-1851. Abstract.
Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, et al (2009). Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes, 58(7), 1704-1709. Abstract.  Author URL.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2009). Low Frequency Variants in the Exons Only Encoding Isoform a of HNF1A Do Not Contribute to Susceptibility to Type 2 Diabetes. PLOS ONE, 4(8). Author URL.
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, et al (2009). Parental origin of sequence variants associated with complex diseases. Nature, 462(7275), 868-874. Abstract.
Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B (2009). Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. J Clin Endocrinol Metab, 94(11), 4608-4612. Abstract.  Author URL.
Ellard S, Allen HL, Johansson S, Hertel JK, Shields B, Raeder H, Colclough K, Molven A, Frayling TM, Njolstad PR, et al (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.  Author URL.
Perry JRB, Weedon MN, Frayling TM (2009). Response to comment on: Perry et al. (2009) Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes;58:1463-1467. Diabetes, 58(9).
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, et al (2009). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet, 41(1), 25-34. Abstract.  Author URL.
Cluett C, McDermott MM, Guralnik J, Ferrucci L, Bandinelli S, Miljkovic I, Zmuda JM, Li R, Tranah G, Harris T, et al (2009). The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people. Circ Cardiovasc Genet, 2(4), 347-353. Abstract.  Author URL.
Webster RJ, Warrington NM, Weedon MN, Hattersley AT, Beilby JP, Frayling TM, Palmer LJ (2009). The Longitudinal Association of Common Susceptibility Variants for Type 2 Diabetes and Obesity with Fasting Plasma Glucose and BMI.  Author URL.
Webster RJ, Warrington NM, Weedon MN, Hattersley AT, McCaskie PA, Beilby JP, Palmer LJ, Frayling TM (2009). The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits. Diabetologia, 52(1), 106-114. Abstract.  Author URL.
Rice NE, Bandinelli S, Corsi AM, Ferrucci L, Guralnik JM, Miller MA, Kumari M, Murray A, Frayling TM, Melzer D, et al (2009). The paraoxonase (PON1) Q192R polymorphism is not associated with poor health status or depression in the ELSA or INCHIANTI studies. Int J Epidemiol, 38(5), 1374-1379. Abstract.  Author URL.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, et al (2009). Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes, 58(6), 1428-1433. Abstract.  Author URL.
Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, et al (2009). Underlying genetic models of inheritance in established type 2 diabetes associations. American Journal of Epidemiology, 170(5), 537-545. Abstract.

2008

Perry JRB, Melzer D, Maggio M, Hernandez D, Singleton A, Ferrucci L, Palmer C, Bennett A, Ruokonen A, Panicker V, et al (2008). A Mendelian randomisation study provides initial evidence that sex hormone binding globulin (SHBG) levels alter type 2 diabetes risk.  Author URL.
Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JRB, Weedon MN, Singleton A, Hernandez D, Evans J, et al (2008). A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab, 93(8), 3075-3081. Abstract.  Author URL.
Frayling TM, Colhoun H, Florez JC (2008). A genetic link between type 2 diabetes and prostate cancer. Diabetologia, 51(10), 1757-1760. Abstract.  Author URL.
Melzer D, Perry JRB, Hernandez D, Corsi A-M, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, et al (2008). A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet, 4(5). Abstract.  Author URL.  Full text.
Mccarthy MI, Zeggini E, Jafarmohammad B, Timpson NJ, Frayling TM, Weedon MN, Elliott KS, Lingdren CM, Lango H, Perry JR, et al (2008). Analysis of overlap between type 2 diabetes signals identified through genome-wide linkage and association approaches.  Author URL.
Lango H, UK Type 2 Diabetes Genetics Consortium, Palmer CNA, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN (2008). Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes, 57(11), 3129-3135. Abstract.  Author URL.
Pascoe L, Frayling TM, Weedon MN, Mari A, Tura A, Ferrannini E, Walker M, RISC Consortium (2008). Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles. Diabetologia, 51(11), 1989-1992. Abstract.  Author URL.
Frayling TM (2008). Commentary: Genetic association studies see light at the end of the tunnel. Int J Epidemiol, 37(1), 133-135. Author URL.
Loos RJF, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, et al (2008). Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet, 40(6), 768-775. Abstract.  Author URL.
Freathy RM, Timpson NJ, Lawlor DA, Pouta A, Ben-Shlomo Y, Ruokonen A, Ebrahim S, Shields B, Zeggini E, Weedon MN, et al (2008). Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI. Diabetes, 57(5), 1419-1426. Abstract.  Author URL.
Hattersley AT, Freathy RM, Bennett AI, Ring SM, Timpson NJ, Pouta A, Ruokonen A, Hypponen E, Power C, Elliott P, et al (2008). Direct evidence to support the fetal insulin hypothesis as the type 2 diabetes risk alleles at the CDKALI and HHEX-IDE gene loci reduce birth weight.  Author URL.
Frayling TM, Rafiq S, Melzer D, Maggio M, Paulisso G, Hernandez D, Singleton A, Zeggini E, Morris A, Palmer CN, et al (2008). Evidence that common genetic variation altering sex hormone binding globulin levels influences type 2 diabetes risk.  Author URL.
Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD (2008). Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Medicine, 5(3), 0484-0493. Abstract.
Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD (2008). Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Med, 5(3). Abstract.  Author URL.
Zeggini E, Lawrence R, Hattersley AT, Frayling TM, Elliott KS, McCarthy MI, Control WTC (2008). Extended analysis of genome-wide scans provides clues about novel common and rare susceptibility loci for type 2 diabetes.  Author URL.
Rice NE, Patel BD, Lang IA, Kumari M, Frayling TM, Murray A, Melzer D (2008). Filaggrin gene mutations are associated with asthma and eczema in later life. J Allergy Clin Immunol, 122(4), 834-836. Author URL.
Morris A, Prokopenko I, Akan P, Lango H, Frayling TM, Deloukas P, Hattersley AT, McCarthy MI (2008). Fine-mapping T2D causal variants on chromosome 9p21 in 2000 UK cases and 3000 unselected controls.  Author URL.
Morris A, Prokopenko I, Akan P, Lango H, Zeggini E, Frayling TM, Deloukas P, Hattersley AT, McCarthy MI (2008). Fine-mapping type 2 diabetes causal variants on chromosome 9p21 in 2000 UK cases and 3000 unselected controls.  Author URL.
Melzer D, Ferrucci L, Singleton A, Guralnik JM, Murray A, Bandinelli S, Corsi A, Frayling T, Bandinelli S (2008). GENETIC VARIATION AND RESILIENCE IN HUMAN AGING: THE SAGA STUDY. GERONTOLOGIST, 48, 1-1. Author URL.
Rafiq S, Melzer D, Weedon MN, Lango H, Saxena R, Scott LJ, DIAGRAM Consortium, Palmer CNA, Morris AD, McCarthy MI, et al (2008). Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Diabetologia, 51(12), 2205-2213. Abstract.  Author URL.
Rafiq S, Melzer D, Weedon MN, Zeggini E, Lindgren CM, Lango H, Hattersley AT, McCarthy MI, Frayling TM, Diabetes WTCCCUKT2, et al (2008). Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases do not alter the risk of type 2 diabetes.  Author URL.
Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JRB, Stevens S, Hall AS, et al (2008). Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet, 40(5), 575-583. Abstract.  Author URL.