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University of Exeter Medical School

Dr Rachel Freathy

Dr Rachel Freathy

Associate Professor and Wellcome Trust Senior Research Fellow

 01392 408238

 RILD Building 


University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK


Rachel is a Wellcome Trust Senior Research Fellow and Associate Professor at the University of Exeter Medical School. Her team 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 team's work is to bring together data from large studies of mothers and babies. Rachel is leading genome-wide meta-analyses of birth weight and related characteristics in the Early Growth Genetics (EGG) Consortium, an international collaboration of investigators. These analyses have resulted in publications in Nature (2016), Nature Genetics (2010, 2013, 2019) and Human Molecular Genetics (2018), identifying 190 regions of the genome harbouring 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, the team 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, the team 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; Nature Genetics, 2019).


 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]


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.


Research group links

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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.


Dr. Freathy would be pleased to supervise research post-graduate students in the above research areas. If any of these are of interest please contact us.

Research grants

  • 2019 Diabetes UK
    PhD Studentship: Using genetics to improve the prediction of large for gestational age babies in women with gestational diabetes
  • 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

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Journal articles

Tyrrell J, O'Loughlin J, Casanova F, Bowden J, Freathy R, Watkins E (In Press). BMI and Well-being in people of East Asian and European Ancestry: a Mendelian Randomisation Study. Translational Psychiatry Abstract.
Beaumont R, Kotecha SJ, Wood AR, Knight BA, Sebert S, McCarthy MI, Hattersley AT, Järvelin M-R, Timpson NJ, Freathy RM, et al (In Press). Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies. PLoS Genetics Abstract.
Jones SE, van Hees VT, Mazzotti DR, Marques-Vidal P, Sabia S, van der Spek A, Dashti HS, Engmann J, Kocevska D, Tyrrell J, et al (In Press). Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour. Nature Communications Abstract.
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
Freathy RM, Warrington NM, Neale MC, Evans DM (In Press). Using Structural Equation Modelling to Jointly Estimate Maternal and Fetal Effects on Birthweight in the UK Biobank. International Journal of Epidemiology
Solé-Navais P, Flatley C, Steinthorsdottir V, Vaudel M, Juodakis J, Chen J, Laisk T, LaBella AL, Westergaard D, Bacelis J, et al (2023). Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight. Nat Genet, 55(7). Author URL.
Zhao J, Stewart ID, Baird D, Mason D, Wright J, Zheng J, Gaunt TR, Evans DM, Freathy RM, Langenberg C, et al (2023). Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study. EBioMedicine, 88 Abstract.  Author URL.
McBride N, Fernández-Sanlés A, Arab MA, Bond TA, Zheng J, Magnus MC, Corfield EC, Clayton GL, Hwang L-D, Beaumont RN, et al (2023). Effects of the maternal and fetal proteome on birth weight: a Mendelian randomization analysis. medRxiv Abstract.  Author URL.
Solé-Navais P, Flatley C, Steinthorsdottir V, Vaudel M, Juodakis J, Chen J, Laisk T, LaBella AL, Westergaard D, Bacelis J, et al (2023). Genetic effects on the timing of parturition and links to fetal birth weight. Nat Genet, 55(4), 559-567. Abstract.  Author URL.
Beaumont RN, Flatley C, Vaudel M, Wu X, Chen J, Moen G-H, Skotte L, Helgeland Ø, Solé-Navais P, Banasik K, et al (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. Nature Genetics, 55(11), 1807-1819. Abstract.
D'Urso S, Moen G-H, Hwang L-D, Hannigan LJ, Corfield EC, Ask H, Johannson S, Njølstad PR, Beaumont RN, Freathy RM, et al (2023). Intrauterine Growth and Offspring Neurodevelopmental Traits: a Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa). JAMA Psychiatry Abstract.  Author URL.
Decina CS, Hopkins R, Bowden J, Shields BM, Lawlor DA, Warrington NM, Evans DM, Freathy RM, Beaumont RN (2023). Investigating a possible causal relationship between maternal serum urate concentrations and offspring birthweight: a Mendelian randomization study. Int J Epidemiol, 52(1), 178-189. Abstract.  Author URL.
O'Loughlin J, Casanova F, Fairhurst-Hunter Z, Hughes A, Bowden J, Watkins ER, Freathy RM, Millwood IY, Lin K, Chen Z, et al (2023). Mendelian randomisation study of body composition and depression in people of East Asian ancestry highlights potential setting-specific causality. BMC Med, 21(1). Abstract.  Author URL.
Hughes AE, De Franco E, Freathy RM, Fetal Insulin and Growth Consortium, Flanagan SE, Hattersley AT (2023). Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth. J Clin Invest, 133(6). Author URL.
(2023). Regulation of placental growth is a complex interplay of maternal and fetal genomes. Nature Genetics, 55(11), 1786-1787.
Jaitner A, Vaudel M, Tsaneva-Atanasova K, Njølstad PR, Jacobsson B, Bowden J, Johansson S, Freathy RM (2023). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. medRxiv Abstract.  Author URL.
Haulder M, Hughes AE, Beaumont RN, Knight BA, Hattersley AT, Shields BM, Freathy RM (2022). Assessing whether genetic scores explain extra variation in birthweight, when added to clinical and anthropometric measures. BMC Pediatrics, 22(1). Abstract.
Nongmaithem SS, Beaumont RN, Dedaniya A, Wood AR, Ogunkolade B-W, Hassan Z, Krishnaveni GV, Kumaran K, Potdar RD, Sahariah SA, et al (2022). Babies of South Asian and European Ancestry Show Similar Associations with Genetic Risk Score for Birth Weight Despite the Smaller Size of South Asian Newborns. Diabetes, 71(4), 821-836. Abstract.  Author URL.
Vogelezang S, Bradfield JP, Vogelezang S, Bradfield JP, Johansson S, Stergiakouli E, Thiering E, Pennell CE, Ahluwalia TS, Karhunen V, et al (2022). Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes. BMC Medical Genomics, 15(1). Abstract.
Pervjakova N, Moen G-H, Borges M-C, Ferreira T, Cook JP, Allard C, Beaumont RN, Canouil M, Hatem G, Heiskala A, et al (2022). Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Hum Mol Genet, 31(19), 3377-3391. Abstract.  Author URL.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2021). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Gage MC, Harrington D, Brierley GV, Freathy RM, Gabriel BM, Gibson R, McNeilly AD, Meek CL, Roberts LD (2021). Challenges and solutions for diabetes early career researchers in the COVID-19 recovery: Perspectives of the Diabetes UK Innovators in Diabetes. Diabetic Medicine
Beaumont RN, Mayne IK, Freathy RM, Wright CF (2021). Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders. Human Molecular Genetics, 30(11), 1057-1066. Abstract.
Casanova F, O'Loughlin J, Martin S, Beaumont RN, Wood AR, Watkins ER, Freathy RM, Hagenaars SP, Frayling TM, Yaghootkar H, et al (2021). Higher adiposity and mental health: causal inference using Mendelian randomization. Hum Mol Genet, 30(24), 2371-2382. Abstract.  Author URL.
Moen G-H, Beaumont RN, Grarup N, Sommer C, Shields BM, Lawlor DA, Freathy RM, Evans DM, Warrington NM (2021). Investigating the causal effect of maternal vitamin B12 and folate levels on offspring birthweight. Int J Epidemiol, 50(1), 179-189. Abstract.  Author URL.
Evans DM, Freathy RM (2021). Shedding light on the genetics of fetal growth. Nature Genetics, 53(8), 1120-1121.
Hughes AE, Hattersley AT, Flanagan SE, Freathy RM (2021). Two decades since the fetal insulin hypothesis: what have we learned from genetics?. Diabetologia, 64(4), 717-726. Abstract.
O'Loughlin J, Casanova F, Jones SE, Hagenaars SP, Beaumont RN, Freathy RM, Watkins ER, Vetter C, Rutter MK, Cain SW, et al (2021). Using Mendelian Randomisation methods to understand whether diurnal preference is causally related to mental health. Mol Psychiatry, 26(11), 6305-6316. Abstract.  Author URL.
Sadovsky Y, Mesiano S, Burton GJ, Lampl M, Murray JC, Freathy RM, Mahadevan-Jansen A, Moffett A, Price ND, Wise PH, et al (2020). Advancing human health in the decade ahead: pregnancy as a key window for discovery: a Burroughs Wellcome Fund Pregnancy Think Tank. Am J Obstet Gynecol, 223(3), 312-321. Abstract.  Author URL.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Chen J, Bacelis J, Sole-Navais P, Srivastava A, Juodakis J, Rouse A, Hallman M, Teramo K, Melbye M, Feenstra B, et al (2020). Dissecting maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes, and adult phenotypes: a mendelian-randomization and haplotype-based genetic score analysis in 10,734 mother–infant pairs. PLoS Medicine, 17(8). Abstract.
Thompson WD, Beaumont RN, Kuang A, Warrington NM, Ji Y, Tyrrell J, Wood AR, Scholtens D, Knight BA, Evans DM, et al (2020). Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight.  Abstract.
Cousminer DL, Freathy RM (2020). Genetics of early growth traits. Hum Mol Genet, 29(R1), R66-R72. Abstract.  Author URL.
Thompson WD, Beaumont RN, Kuang A, Warrington NM, Ji Y, Tyrrell J, Wood AR, Scholtens D, Knight BA, Evans DM, et al (2020). Higher maternal adiposity reduces offspring birth weight if associated with a metabolically favourable profile.  Abstract.
Moen G-H, Brumpton B, Willer C, Åsvold BO, Birkeland KI, Wang G, Neale MC, Freathy RM, Smith GD, Lawlor DA, et al (2020). Mendelian randomization study of maternal influences on birthweight and future cardiometabolic risk in the HUNT cohort. Nature Communications, 11(1). Abstract.
Vogelezang S, Bradfield JP, Ahluwalia TS, Curtin JA, Lakka TA, Grarup N, Scholz M, van der Most PJ, Monnereau C, Stergiakouli E, et al (2020). Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. PLoS Genet, 16(10). Abstract.  Author URL.
Sadovsky Y, Freathy RM, Mahadevan-Jansen A, Mesiano S, Murray JC, Muglia LJ (2020). Reply to "Diversity is essential for good science and Reproductive science is no different: a response to the recent formulation of the Burroughs Welcome Fund Pregnancy Think-Tank". Am J Obstet Gynecol, 223(6), 951-952. Author URL.
Schnurr TM, Morgen CS, Borisevich D, Beaumont RN, Engelbrechtsen L, Ängquist L, Have CT, Freathy RM, Smith GD, Nohr EA, et al (2020). The influence of transmitted and non-transmitted parental BMI-associated alleles on the risk of overweight in childhood. Sci Rep, 10(1). Abstract.  Author URL.
Thompson WD, Tyrrell J, Borges MC, Beaumont RN, Knight BA, Wood AR, Ring SM, Hattersley AT, Freathy RM, Lawlor DA, et al (2019). Association of maternal circulating 25(OH)D and calcium with birth weight: a mendelian randomisation analysis. PLoS Medicine, 16
Alves AC, De Silva NMG, Karhunen V, Sovio U, Das S, Rob Taal H, Warrington NM, Lewin AM, Kaakinen M, Cousminer DL, et al (2019). GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. Science Advances, 5(9). Abstract.
Ji Y, Yiorkas AM, Frau F, Mook-Kanamori D, Staiger H, Thomas EL, Atabaki-Pasdar N, Campbell A, Tyrrell J, Jones SE, et al (2019). Genome-Wide and Abdominal MRI Data Provide Evidence That a Genetically Determined Favorable Adiposity Phenotype is Characterized by Lower Ectopic Liver Fat and Lower Risk of Type 2 Diabetes, Heart Disease, and Hypertension. Diabetes, 68(1), 207-219. Abstract.  Author URL.
Jones SE, Lane JM, Wood AR, van Hees VT, Tyrrell J, Beaumont RN, Jeffries AR, Dashti HS, Hillsdon M, Ruth KS, et al (2019). Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms. Nature Communications Abstract.
Chen J, Bacelis J, Navais PS, Srivastava A, Juodakis J, Rouse A, Hallman M, Teramo K, Melbye M, Feenstra B, et al (2019). Haplotype genetic score analysis in 10,734 mother/infant pairs reveals complex maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes and adult phenotypes.  Abstract.
Warrington NM, Beaumont RN, Horikoshi M, Day FR, Helgeland Ø, Laurin C, Bacelis J, Peng S, Hao K, Feenstra B, et al (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nat Genet, 51(5), 804-814. Abstract.  Author URL.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, et al (2019). Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genet Med, 21(4), 877-886. Abstract.  Author URL.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, et al (2019). Response to Prakash et al. Genet Med, 21(8), 1884-1885. Author URL.
Kikas T, Rull K, Beaumont RN, Freathy RM, Laan M (2019). The Effect of Genetic Variation on the Placental Transcriptome in Humans. Frontiers in Genetics
Middeldorp CM, Felix JF, Mahajan A, McCarthy MI (2019). The early growth genetics (Egg) and early genetics and lifecourse epidemiology (eagle) consortia: Design, results and future prospects. European Journal of Epidemiology, 34(3), 279-300. Abstract.
Hwang L-D, Lawlor DA, Freathy RM, Evans DM, Warrington NM (2019). Using a two-sample Mendelian randomization design to investigate a possible causal effect of maternal lipid concentrations on offspring birth weight. Int J Epidemiol, 48(5), 1457-1467. Abstract.  Author URL.
Tyrrell J, Mulugeta A, Wood AR, Zhou A, Beaumont RN, Tuke MA, Jones SE, Ruth KS, Yaghootkar H, Sharp S, et al (2019). Using genetics to understand the causal influence of higher BMI on depression. Int J Epidemiol, 48(3), 834-848. Abstract.  Author URL.
Liu X, Helenius D, Skotte L, Beaumont RN, Wielscher M, Geller F, Juodakis J, Mahajan A, Bradfield JP, Lin FTJ, et al (2019). Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nat Commun, 10(1). Abstract.  Author URL.
Frayling TM (2018). A Common Allele in FGF21 Associated with Sugar Intake is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure. Cell Reports, 23(2), 327-336.
Hughes AE, Nodzenski M, Beaumont RN, Talbot O, Shields BM, Scholtens DM, Knight BA, Lowe WL, Hattersley AT, Freathy RM, et al (2018). Fetal Genotype and Maternal Glucose Have Independent and Additive Effects on Birth Weight. Diabetes, 67(5), 1024-1029. Abstract.  Author URL.
Beaumont RN, Warrington NM, Cavadino A, Tyrrell J, Nodzenski M, Horikoshi M, Geller F, Myhre R, Richmond RC, Paternoster L, et al (2018). Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Hum Mol Genet, 27(4), 742-756. Abstract.  Author URL.
Warrington NM, Richmond R, Fenstra B, Myhre R, Gaillard R, Paternoster L, Wang CA, Beaumont RN, Das S, Murcia M, et al (2018). Maternal and fetal genetic contribution to gestational weight gain. Int J Obes (Lond), 42(4), 775-784. Abstract.  Author URL.
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.
Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M, Antel J, Heid IM, Winkler TW, Grant SFA, Guo Y, et al (2017). Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Molecular Psychiatry, 22(2), 192-201. Abstract.
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.
De Silva NMG, Sebert S, Alves AC, Sovio U, Das S, Taal R, Warrington NM, Lewin AM, Kaakinen M, Cousminer D, et al (2017). Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity.  Abstract.
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.
Warrington NM, Freathy R, Neale MC, Evans DM (2017). Using Structural Equation Modeling to Jointly Estimate Maternal and Foetal Effects on Birthweight in the UK Biobank.  Abstract.
Freathy RM (2016). Can genetic evidence help us to understand the fetal origins of type 2 diabetes?. Diabetologia, 59(9), 1850-1854. Abstract.
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.
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.
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.
Jones SE, Tyrrell J, Wood AR, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Hu Y, Teder-Laving M, Hayward C, et al (2016). Genome-wide association analyses in 128,266 individuals identifies new morningness and sleep duration loci. PLoS Genetics
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.
Frayling TM, Tyrrell J, Jones SE, Beaumont R, Astley CM, Lovell R, Yaghootkar H, Tuke M, Ruth KS, Freathy RM, et al (2016). Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. British Medical Journal
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.
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.
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.
Cousminer DL, Stergiakouli E, Berry DJ, Ang W, Groen-Blokhuis MM, Körner A, Siitonen N, Ntalla I, Marinelli M, Perry JRB, et al (2014). Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. Human Molecular Genetics, 23(16), 4452-4464. Abstract.
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.
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.
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.
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.
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.
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.
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 <i>COMT</i> Val<SUP>108/158</SUP>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.
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.
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 <i>GCK</i> and <i>TCF7L2</i> 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.
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 (<i>TCF7L2</i>) 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.
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.
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.


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.

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External Engagement and Impact


  • 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

“Perspectives from a former Sir Henry Wellcome Fellow” Keynote speech at Sir Henry Wellcome Fellows’ meeting, Wellcome Trust, June 26, 2018

“Insights from genetic studies of birth weight” Keynote presentation at the MRC Integrative Epidemiology Unit Quinquennial Showcase Event, We the Curious, Bristol, UK, May 1, 2018.

“Insights from genetic studies of birth weight” Genes, Genomes and Pediatric Disease Seminar Series, Children’s Hospital of Philadelphia, Philadelphia, USA, April 3, 2018.

 “Genetics of birth weight and later life diseases” Developmental Origins of Health and Disease 10thWorld Congress: Lifecourse Health and Disease: Observations, Experiments and Interventions, Rotterdam, the Netherlands, October 16, 2017.

Genetic and environmental determinants of birth weight and links with later life disease” Keystone Symposium: Maternal-Fetal Crosstalk: Harmony vs. Conflict, Washington DC, USA, October 8, 2017.

“Causal associations between maternal characteristics and offspring birth weight” Mendelian Randomization in the Age of Large-Scale Accessible Genomics Data, Bristol, UK, July 11, 2017.

“Genetic studies of birth weight: the importance of maternal and fetal data” Wellcome Trust Researcher meeting on Genetics and Physiology, Hinxton, UK, June 14, 2017.

“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.

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Supervision / Group

Research Fellows

  • Brandon Lim

Postdoctoral researchers

  • Daniel Leirer

Postgraduate researchers

  • Caitlin Decina
  • Maneka Haulder
  • Alice Hughes
  • William David Thompson

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