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Dr Rachel Freathy

Dr Rachel Freathy

Sir Henry Dale Fellow

01392 408238

Medical School Building 

Rachel is a Sir Henry Dale Fellow at the University of Exeter Medical School. Her research aims to use genetics to understand the factors affecting the growth of a foetus in utero and its association with type 2 diabetes in adulthood.

A key feature of her work is to bring together data from large studies of mothers and babies. Rachel is leading genome-wide meta-analyses of birth weight in the Early Growth Genetics (EGG) Consortium, a worldwide collaboration of investigators. These analyses have resulted in publications in Nature (2016), and Nature Genetics (2010, 2013), identifying 60 common genetic variants that are robustly associated with birth weight and highlighting genetic links between fetal growth and adult cardiometabolic traits.

As well as identifying genetic associations, Rachel is using these genetic associations in Mendelian randomization analyses to try to understand whether maternal characteristics are causally related to offspring birth weight. With colleagues in the EGG Consortium, in analyses of >30,000 women, she has provided evidence that higher maternal BMI and fasting glucose are causally related to greater offspring birth weight, while higher maternal blood pressure is causally related to lower offspring birth weight (JAMA, 2016).

Qualifications

 2007 - PhD, University of Exeter (Molecular Genetics of Type 2 Diabetes and Body Size)

2004 - MSc, University of Exeter (Biological Research Methods, Distinction)

1999 - PGCE, University of Oxford (Secondary Science)

1998 - BA (Hons), University of Oxford (Biological Sciences) [MA (Oxon), 2002]

Career

Rachel graduated with a BA in Biological Sciences from the University of Oxford in 1998 and, following four years as a secondary school Science teacher in Devon, completed an MSc and PhD at the University of Exeter. As a Diabetes UK-funded PhD student with Professors Andrew Hattersley and Tim Frayling, she participated in the first genome-wide association studies of type 2 diabetes and developed an interest in the maternal and fetal genetics of birth weight and its link with type 2 diabetes.

In 2008, she was awarded a Sir Henry Wellcome Postdoctoral Fellowship to investigate the role of genes in fetal and childhood growth and to spend time working and training in Exeter, Bristol, and Chicago. This has enabled her to collaborate with world-leading experts in genetics, diabetic medicine, statistical methods and epidemiology, and bring together data from the Exeter Family Study of Childhood Health, the Avon Longitudinal Study of Parents and Children (ALSPAC) and the Hyperglycaemia and Adverse Pregnancy Outcome (HAPO) study.

Rachel was awarded a prestigious Sir Henry Dale Fellowship in 2014 by the Wellcome Trust and Royal Society. Her current work focuses on using maternal and fetal genetics to understand the role of the intrauterine environment in fetal growth.

Links

Research

Research interests

Research projects

Genome-wide association studies to identify fetal and maternal genetic variants that influence offspring birth weight.

Using genetics to identify causality in associations between maternal quantitative traits and offspring birth weight.

Genetics of gestational diabetes mellitus. 

 

RESEARCH STUDENTS:

Dr. Freathy would be pleased to supervise research post-graduate students in the above research areas. If any of these are of interest please indicate this in an email to UEMS Graduate Research (UEMS-graduateresearch@exeter.ac.uk) who will assist you further with your enquiry.

 

Research grants

  • 2014 Wellcome Trust and Royal Society
    Using genetics to understand how the maternal intrauterine environment influences fetal growth
  • 2008 Diabetes, UK.
    Defining the roles and mechanisms of type 2 diabetes, obesity and hyperglycaemia genes in fetal growth
  • 2008 Wellcome Trust
    Sir Henry Wellcome Postdoctoral Fellowship: The Role of Maternal and Offspring Metabolic and Anthropometric Gene Variants in Fetal and Childhood Growth

Key publications | Publications by category | Publications by year

Key publications


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.
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, et al (2016). Genome-wide associations for birth weight and correlations with adult disease. Nature, 538(7624), 248-252. Abstract.  Author URL.  Full text.
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. Full text.
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.
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.  Full text.
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.

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.
Freathy RM, Beaumont RN, Horikoshi M, McCarthy MI (In Press). How can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?. Current Diabetes Reports Full text.
Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, et al (2017). CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nat Commun, 8(1). Abstract.  Author URL.
Tyrrell J, Wood AR, Ames RM, Yaghootkar H, Beaumont RN, Jones SE, Tuke MA, Ruth KS, Freathy RM, Davey Smith G, et al (2017). Gene-obesogenic environment interactions in the UK Biobank study. Int J Epidemiol, 46(2), 559-575. Abstract.  Author URL.  Full text.
Yaghootkar H, Bancks MP, Jones SE, McDaid A, Beaumont R, Donnelly L, Wood AR, Campbell A, Tyrrell J, Hocking LJ, et al (2017). Quantifying the extent to which index event biases influence large genetic association studies. Hum Mol Genet, 26(5), 1018-1030. Abstract.  Author URL.  Full text.
Freathy RM (2016). Can genetic evidence help us to understand the fetal origins of type 2 diabetes?. Diabetologia, 59(9), 1850-1854. Abstract.  Full text.
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.
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, et al (2016). Genome-wide associations for birth weight and correlations with adult disease. Nature, 538(7624), 248-252. Abstract.  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.
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.
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.
Chakera AJ, Freathy RM, Ellard S, Hattersley AT, Weedon MN (2015). Using a human monogenic model to determine the function of common genetic variants that predispose to Type 2 diabetes or raise fasting glucose. DIABETIC MEDICINE, 32, 60-60. Author URL.
Freathy RM, Tyrrell J, Bradfield JP, Cavadino A, Feenstra B, Hayes MG, Hottenga JJ, Huikari V, Kreiner-Moller E, Metrustry S, et al (2014). Genetic analyses identify positive causal effects of maternal fasting glucose, Type 2 diabetes and vitamin D levels, and an inverse causal effect of maternal blood pressure, on offspring birth weight. DIABETIC MEDICINE, 31, 18-18. 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.
Horikoshi M, Kooijman MN, Bradield JP, Strachan D, Tejedor NV, Kreiner-Moller E, Joshi P, Lindi V, Grarup N, Grant SFA, et al (2014). Meta-analysis of birth weight genome-wide association studies identifies two novel loci extending links between early growth and adult metabolic diseases. DIABETOLOGIA, 57, S51-S51. Author URL.
Freathy RM, Chakera AJ, Ellard S, Hattersley AT, Dunne F (2014). Women with gestational diabetes diagnosed by IADPSG criteria have a different genetic predisposition than those diagnosed by WHO criteria. DIABETIC MEDICINE, 31, 68-68. 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.
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. 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.
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.
Yaghootkar H, Freathy RM (2012). Genetic origins of low birth weight. Curr Opin Clin Nutr Metab Care, 15(3), 258-264. Abstract.  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.
Urbanek M, Hayes MG, Lee H, Freathy RM, Lowe LP, Ackerman C, Jafari N, Dyer AR, Cox NJ, Dunger DB, et al (2012). The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. PLoS ONE, 7(3). Abstract.  Full text.
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. HUMAN MOLECULAR GENETICS, 20(20), 4069-4075. Author URL.
Munafo MR, Freathy RM, Ring SM, St Pourcain B, Smith GD (2011). Association of COMT Val(108/158)Met Genotype and Cigarette Smoking in Pregnant Women. NICOTINE & TOBACCO RESEARCH, 13(2), 55-63. Author URL.
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.
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.
Lewis SJ, Araya R, Smith GD, Freathy R, Gunnell D, Palmer T, Munafò M (2011). Smoking is associated with, but does not cause, depressed mood in pregnancy--a mendelian randomization study. PLoS One, 6(7). Abstract.  Author URL.  Full text.
Shields BM, Freathy RM, Hattersley AT (2010). Genetic influences on the association between fetal growth and susceptibility to type 2 diabetes. JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE, 1(2), 96-105. Author URL.
Hayes MG, Freathy RM, 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.
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.  Full text.
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.
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.
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.
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.
Barber TM, Bennett AJ, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Hartikainen A-L, Elliott P, Lindgren CM, et al (2008). Association of variants in the fat mass and obesity associated (FTO) gene with polycystic ovary syndrome. Diabetologia, 51(7), 1153-1158. Abstract.  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.
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.
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.
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.
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.
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.
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.
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.

Chapters

Freathy RM (2011). Understanding the genetics of birth weight. In  (Ed) International Symposium of the European Group of Pediatric Work Physiology, September, 2011, 51-55.

Conferences

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.

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.
Freathy RM, Beaumont RN, Horikoshi M, McCarthy MI (In Press). How can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?. Current Diabetes Reports Full text.

2017

Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, et al (2017). CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nat Commun, 8(1). Abstract.  Author URL.
Tyrrell J, Wood AR, Ames RM, Yaghootkar H, Beaumont RN, Jones SE, Tuke MA, Ruth KS, Freathy RM, Davey Smith G, et al (2017). Gene-obesogenic environment interactions in the UK Biobank study. Int J Epidemiol, 46(2), 559-575. Abstract.  Author URL.  Full text.
Yaghootkar H, Bancks MP, Jones SE, McDaid A, Beaumont R, Donnelly L, Wood AR, Campbell A, Tyrrell J, Hocking LJ, et al (2017). Quantifying the extent to which index event biases influence large genetic association studies. Hum Mol Genet, 26(5), 1018-1030. Abstract.  Author URL.  Full text.

2016

Freathy RM (2016). Can genetic evidence help us to understand the fetal origins of type 2 diabetes?. Diabetologia, 59(9), 1850-1854. Abstract.  Full text.
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.
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, et al (2016). Genome-wide associations for birth weight and correlations with adult disease. Nature, 538(7624), 248-252. Abstract.  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.
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 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.
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.
Chakera AJ, Freathy RM, Ellard S, Hattersley AT, Weedon MN (2015). Using a human monogenic model to determine the function of common genetic variants that predispose to Type 2 diabetes or raise fasting glucose. DIABETIC MEDICINE, 32, 60-60. Author URL.

2014

Freathy RM, Tyrrell J, Bradfield JP, Cavadino A, Feenstra B, Hayes MG, Hottenga JJ, Huikari V, Kreiner-Moller E, Metrustry S, et al (2014). Genetic analyses identify positive causal effects of maternal fasting glucose, Type 2 diabetes and vitamin D levels, and an inverse causal effect of maternal blood pressure, on offspring birth weight. DIABETIC MEDICINE, 31, 18-18. 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.
Horikoshi M, Kooijman MN, Bradield JP, Strachan D, Tejedor NV, Kreiner-Moller E, Joshi P, Lindi V, Grarup N, Grant SFA, et al (2014). Meta-analysis of birth weight genome-wide association studies identifies two novel loci extending links between early growth and adult metabolic diseases. DIABETOLOGIA, 57, S51-S51. Author URL.
Freathy RM, Chakera AJ, Ellard S, Hattersley AT, Dunne F (2014). Women with gestational diabetes diagnosed by IADPSG criteria have a different genetic predisposition than those diagnosed by WHO criteria. DIABETIC MEDICINE, 31, 68-68. 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.
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. 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.

2012

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.
Yaghootkar H, Freathy RM (2012). Genetic origins of low birth weight. Curr Opin Clin Nutr Metab Care, 15(3), 258-264. Abstract.  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.
Urbanek M, Hayes MG, Lee H, Freathy RM, Lowe LP, Ackerman C, Jafari N, Dyer AR, Cox NJ, Dunger DB, et al (2012). The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. PLoS ONE, 7(3). Abstract.  Full text.

2011

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. HUMAN MOLECULAR GENETICS, 20(20), 4069-4075. Author URL.
Munafo MR, Freathy RM, Ring SM, St Pourcain B, Smith GD (2011). Association of COMT Val(108/158)Met Genotype and Cigarette Smoking in Pregnant Women. NICOTINE & TOBACCO RESEARCH, 13(2), 55-63. Author URL.
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.
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.
Lewis SJ, Araya R, Smith GD, Freathy R, Gunnell D, Palmer T, Munafò M (2011). Smoking is associated with, but does not cause, depressed mood in pregnancy--a mendelian randomization study. PLoS One, 6(7). Abstract.  Author URL.  Full text.
Freathy RM (2011). Understanding the genetics of birth weight. In  (Ed) International Symposium of the European Group of Pediatric Work Physiology, September, 2011, 51-55.

2010

Shields BM, Freathy RM, Hattersley AT (2010). Genetic influences on the association between fetal growth and susceptibility to type 2 diabetes. JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE, 1(2), 96-105. Author URL.
Hayes MG, Freathy RM, 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.
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.  Full text.

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.
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.
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.
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.

2008

Barber TM, Bennett AJ, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Hartikainen A-L, Elliott P, Lindgren CM, et al (2008). Association of variants in the fat mass and obesity associated (FTO) gene with polycystic ovary syndrome. Diabetologia, 51(7), 1153-1158. Abstract.  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.
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.
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.

2007

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.
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.
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.

2006

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.
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.
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.

Awards

  • 2009. American Society of Human Genetics Postdoctoral Trainee Research Award Semi-Finalist.
  • 2008. Sir Henry Wellcome Postdoctoral Fellowship.
  • 2007. Diabetes UK Nick Hales Young Investigator Award Finalist.
  • 2006. Diabetes UK Basic Science Oral Award Finalist.
  • 2004. Diabetes UK Arthur and Sadie Pethybridge Studentship.

 


Editorial responsibilities

  • 2009-2011. Diabetes Editorial Board Member.

Invited lectures & workshops

Using genetics to understand how the intrauterine environment influences birth weightEuropean Association for the Study of Diabetes (EASD) 52nd Annual Meeting Munich, Germany, September 14, 2016.

Using genetics to understand the link between type 2 diabetes and birth weight”. Jacobaeus Symposium: Genomics of diabetes – what’s next? Bikuben Conference Center, Haukeland University Hospital, Bergen, Norway, May 18-19, 2016.

 “Maternal and fetal genetics of birth weight”. Novo Nordisk Foundation Symposium: Early growth genetics and metabolic diseases – integrated mechanisms and translational perspectives, Copenhagen, Denmark, April 20, 2016.

“Using Mendelian randomization to understand how the maternal intrauterine environment influences fetal growth”. Mendelian Randomization: from population health to pharmaceutical development, Bristol, UK, June 23, 2015.  

“Using genetics to understand how the intrauterine environment influences fetal growth”. Happy Pregnancy Workshop: Pre- and perinatal determinants of health in child- and adulthood, Centre of Genetics and Biotechnology Omicum, Tartu, Estonia, April 24, 2015

 

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