Type 2 Diabetes, Obesity, growth & reproductive ageing genetics


Below you can find links to our publications. Please email one corresponding authors for pdf copies of papers if you cannot get hold of them below or through the journal website. Note we only include papers here where we have played a leading role


Beaumont RN, Horikoshi M, McCarthy MI, Freathy RM.
How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?
Current Diabetes Reports. 2017 Mar 14

Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, many other authors contributing data to GIANT, Rotter JI, Boehnke M, Kathiresan S, McCarthy MI, Willer CJ, Stefansson K, Borecki IB, Liu DJ, North KE, Heard-Costa NL, Pers TH, Lindgren CM, Oxvig C, Kutalik Z, Rivadeneira F, Loos RJ, Frayling TM, Hirschhorn JN, Deloukas P, Lettre G.
Rare and low-frequency coding variants alter human adult height.
Nature Feb 9;542(7640):186-190

Tyrrell J, Wood AR, Ames RM, Yaghootkar H, Beaumont RN, Jones SE, Tuke MA, Ruth KS, Freathy RM, Davey Smith G, Joost S, Guessous I, Murray A, Strachan DP, Kutalik Z, Weedon MN, Frayling TM.
Gene-obesogenic environment interactions in the UK Biobank study.
Int J Epidemiol. 2017 Jan 10


Yaghootkar H, Bancks MP, Jones SE, McDaid A, Beaumont R, Donnelly L, Wood AR, Campbell A, Tyrrell J, Hocking LJ, Tuke MA, Ruth KS, Pearson ER, Murray A, Freathy RM, Munroe PB, Hayward C, Palmer C, Weedon MN, Pankow JS, Frayling TM, Kutalik Z.
Quantifying the extent to which index event biases influence large genetic association studies.
Hum Mol Genet. 2016 Dec 30.

Momoko Horikoshi, Robin N. Beaumont, Felix R. Day, Nicole M. Warrington, Marjolein N. Kooijman, Juan Fernandez-Tajes, Andrew P. Morris, Ken K. Ong, Janine F. Felix, Nicholas J. Timpson, John R. B. Perry, David M. Evans, Mark I. McCarthy & Rachel M. Freathy (+151 authors)
Genome-wide associations for birth weight and correlations with adult disease.
Nature 2016 Oct 13.

Jones SE, Tyrrell J, Wood AR, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Hu Y, Teder-Laving M, Hayward C, Roenneberg T, Wilson JF, Del Greco F, Hicks AA, Shin C, Yun CH, Lee SK, Metspalu A, Byrne EM, Gehrman PR, Tiemeier H, Allebrandt KV, Freathy RM, Murray A, Hinds DA, Frayling TM, Weedon MN.
Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci.
PLoS Genet. 2016 Aug 5;12(8):e1006125. PMCID: PMC4975467.

Yaghootkar H, Lotta LA, Tyrrell J, Smit RA, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, Ruth KS, Padmanabhan S, Jukema JW, Palmer CC, Hattersley A, Freathy RM, Langenberg C, Wareham NJ, Wood AR, Murray A, Weedon MN, Sattar N, Pearson E, Scott RA, Frayling TM
Genetic evidence for a link between favorable adiposity and lower risk of type 2 diabetes, hypertension and heart disease.
Diabetes. 2016. April 26 PMID: 27207519

Tyrrell J, Richmond RC, Palmer TM, Feenstra B, Rangarajan J, Metrustry S, Cavadino A, Paternoster L, Armstrong LL, De Silva NM, Wood AR, Horikoshi M, Geller F, Myhre R, Bradfield JP, Kreiner-Møller E, Huikari V, Painter JN, Hottenga JJ, Allard C, Berry DJ, Bouchard L, Das S, Evans DM, Hakonarson H, Hayes
MG, Heikkinen J, Hofman A, Knight B, Lind PA, McCarthy MI, McMahon G, Medland SE, Melbye M, Morris AP, Nodzenski M, Reichetzeder C, Ring SM, Sebert S, Sengpiel V,
Sørensen TI, Willemsen G, de Geus EJ, Martin NG, Spector TD, Power C, Järvelin MR, Bisgaard H, Grant SF, Nohr EA, Jaddoe VW, Jacobsson B, Murray JC, Hocher B, Hattersley AT, Scholtens DM, Davey Smith G, Hivert MF, Felix JF, Hyppönen E, Lowe WL Jr, Frayling TM, Lawlor DA, Freathy RM; Early Growth Genetics (EGG) Consortium.

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.
JAMA. 2016 Mar 15;315(11):1129-1140. PubMed PMID: 26978208.

Wood AR, Tyrrell J, Beaumont R, Jones SE, Tuke MA, Ruth KS; GIANT consortium, Yaghootkar H, Freathy RM, Murray A, Frayling TM, Weedon MN.
Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.
Diabetologia. 2016 Mar 10. [Epub ahead of print] PubMed PMID: 26961502.

Tyrrell J, Jones SE, Beaumont R, Astley CM, Lovell R, Yaghootkar H, Tuke M, Ruth KS, Freathy RM, Hirschhorn JN, Wood AR, Murray A, Weedon MN, Frayling TM.
Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.
BMJ. 2016 Mar 8;352:i582. PubMed Central PMCID: PMC4783516.

Ruth KS, Campbell PJ, Chew S, Lim EM, Hadlow N, Stuckey BG, Brown SJ, Feenstra B, Joseph J, Surdulescu GL, Zheng HF, Richards JB, Murray A, Spector TD, Wilson SG, Perry JR.
Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.
Eur J Hum Genet. 2016 Feb;24(2):284-90. Epub 2015 May 27. PubMed Central PMCID: PMC4564946.

Ruth KS, Beaumont RN, Tyrrell J, Jones SE, Tuke MA, Yaghootkar H, Wood AR, Freathy RM, Weedon MN, Frayling TM, Murray A.
Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health.
Hum Reprod. 2016 Feb;31(2):473-81. Epub 2016 Jan 4. PubMed Central PMCID: PMC4716809.


Fall T, Xie W, Poon W, Yaghootkar H, Mägi R; GENESIS consortium, Knowles JW, Lyssenko V, Weedon M, Frayling TM*, Ingelsson E.

Using genetic variants to assess the relationship between circulating lipids and type 2 diabetes.
Diabetes. 2015 May 6.

Joshua W. Knowles, Weijia Xie*, Zhongyang Zhang, Indumathi Chennemsetty, Themistocles L. Assimes, Jussi Paananen, Ola Hansson, James Pankow, Mark O. Goodarzi, Ivan Carcamo-Orive, Andrew P. Morris, Yii-Der I. Chen, Ville-Petteri Mäkinen, Andrea Ganna, Anubha Mahajan, Xiuqing Guo, Fahim Abbasi, Danielle M. Greenawalt, Pek Lum, Cliona Molony, Lars Lind, Cecilia Lindgren, Leslie J. Raffel, Philip S. Tsao, The RISC (Relationship between Insulin Sensitivity and Cardiovascular Disease) consortium, The EUGENE2 (European network on Functional Genomics of Type 2 Diabetes) study, The GUARDIAN (Genetics UndeRlying DIAbetes in HispaNics) consortium, The SAPPHIRe (Stanford Asian and Pacific Program for Hypertension and IR) study, Eric E. Schadt, Jerome I. Rotter, Alan Sinaiko, Gerald Reaven, Xia Yang, Chao A. Hsiung, Leif Groop, Heather J. Cordell, Markku Laakso, Ke Hao, Erik Ingelsson, Timothy M. Frayling, Michael N. Weedon, Mark Walker and Thomas Quertermous
Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene
Journal Of Clinical Investigation 2015

Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, ~100 other authors Wareham NJ, Waterworth DM, Boerwinkle E, Kao WH, Florez JC, Loos RJ,Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO.
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Nat Commun. 2015 Jan 29;6:5897. PubMed Central PMCID: PMC4311266.

Yaghootkar H, Stancáková A, Freathy RM, Vangipurapu J, Weedon MN, Xie W, Wood AR, Ferrannini E, Mari A, Ring SM, Lawlor DA, Davey Smith G, Jørgensen T, Hansen T, Pedersen O, Steinthorsdottir V, Guðbjartsson DF, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Hattersley AT, Walker M, Morris AD, McCarthy MI, Palmer CN, Laakso M, Frayling TM.
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. 2015 Jun;64(6):2279-85

Perry JR, Murray A, Day FR, Ong KK.
Molecular insights into the aetiology of female reproductive ageing.
Nat Rev Endocrinol. 2015 Dec;11(12):725-34. Epub 2015 Oct 13. Review. PubMed PMID: 26460341.

Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L,~150 authors, PRACTICAL Consortium; kConFab Investigators; AOCS Investigators; Generation Scotland; EPIC-InterAct Consortium; LifeLines Cohort Study, Price AL, Stefansson K, Visser JA, Ong KK, Chang-Claude J, Murabito JM, Perry JR, Murray A.
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nat Genet. 2015. Nov;47(11):1294-303. Epub 2015 Sep 28. PubMed Central PMCID: PMC4661791.

Lunetta KL, Day FR, Sulem P, Ruth KS, Tung JY, Hinds DA, Esko T, Elks CE, Altmaier E, He C, Huffman ~80 authors, Völzke H, Wareham NJ, Wellons M, Franceschini N, Chasman DI, Thorsteinsdottir U, Murray A, Stefansson K, Murabito JM, Ong KK, Perry JR.
Rare coding variants and X-linked loci associated with age at menarche.
Nat Commun. 2015 Aug 4;6:7756. PubMed Central PMCID: PMC4538850.

Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, Altshuler DM, Frayling TM, Hirschhorn JN, McCarroll SA.
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
Nat Genet. 2015 Aug;47(8):921-5 EPub 2015 Jun 22. PubMed Central PMCID: PMC4712930.

Day FR, Elks CE, Murray A, Ong KK, Perry JR.
Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study.
Sci Rep. 2015 Jun 18;5:11208. PubMed Central PMCID: PMC4471670.

Wood AR, Tuke MA, Nalls M, Hernandez D, Gibbs JR, Lin H, Xu CS, Li Q, Shen J, Jun G, Almeida M, Tanaka T, Perry JR, Gaulton K, Rivas M, Pearson R, Curran JE,Johnson MP, Göring HH, Duggirala R, Blangero J, Mccarthy MI, Bandinelli S, Murray A, Weedon MN, Singleton A, Melzer D, Ferrucci L, Frayling TM.
Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes.
Hum Mol Genet. 2015 Mar 1;24(5):1504-12. doi: PubMed Central PMCID:PMC4321449.


Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, ~150 authors, Snieder H, Sørensen TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM, Ong KK.
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Nature. 2014 Oct 2;514(7520):92-7. Epub 2014 PubMed Central PMCID: PMC4185210.

Perry JR, Hsu YH, Chasman DI, Johnson AD, Elks C, Albrecht E, Andrulis IL, ~70 authors, ReproGen Consortium, Ong KK, Murabito JM, Karasik D, Murray A.
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.
Hum Mol Genet. 2014 May 1;23(9):2490-7. Epub 2013 Dec 19. PubMed Central PMCID: PMC3976329.

Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S **450 authors** Loos RJ, Weedon MN, Ingelsson E, O’Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, Hirschhorn JN, Frayling TM.
Defining the role of common variation in the genomic and biological architecture of adult human height.
Nature Genetics. 2014 Oct 5. PMID: 25282103.

Wood AR, Tuke MA, Nalls MA, Hernandez DG, Bandinelli S, Singleton AB, Melzer D, Ferrucci L, Frayling TM*, Weedon MN*.
Another explanation for apparent epistasis. Brief Communication arising
Nature. 2014 Oct 2;514(7520):E3-5. PMID: 25279928.

Frayling TM. Commentary
Statins and type 2 diabetes: genetic studies on target.
Lancet.2014 Sep 24. pii: S0140-6736(14)61639-1. PMID: 25262342.

Yaghootkar H, Scott RA, White CC, Zhang W, Speliotes E, Munroe PB, Ehret GB, Bis JC, Fox CS, Walker M, Borecki IB, Knowles JW, Yerges-Armstrong L, Ohlsson C, Perry JR, Chambers JC, Kooner JS, Franceschini N, Langenberg C, Hivert MF,Dastani Z, Richards JB, Semple RK, Frayling TM.
Genetic evidence for a normal-weight “metabolically obese” phenotype linking insulin resistance,hypertension, coronary artery disease and type 2 diabetes.
Diabetes. 2014 Jul 21. PMID: 25048195.

Frayling TM, Hattersley AT. Commentary
Physiology helps GWAS take a step closer to mechanism.
Diabetes. 2014 Jun;63(6):1836-7. PMID: 24853896.


Tyrrell JS, Yaghootkar H, Freathy RM, Hattersley AT, Frayling TM.
Parental diabetes and birthweight in 236 030 individuals in the UK Biobank Study.
Int J Epidemiol. 2013 Dec;42(6):1714-23. PMID: 24336895; PMCID: PMC3887570.

Perry JR, Corre T, Esko T, Chasman DI, Fischer K, Franceschini N, He C, Kutalik Z, Mangino M, Rose LM, Vernon Smith A, Stolk L, Sulem P, Weedon MN, Zhuang WV, Arnold A, Ashworth A, Bergmann S, Buring JE, Burri A, Chen C, Cornelis MC, Couper DJ, Goodarzi MO, Gudnason V, Harris T, Hofman A, Jones M, Kraft P, Launer L, Laven JS, Li G, McKnight B, Masciullo C, Milani L, Orr N, Psaty BM; ReproGen Consortium, Ridker PM, Rivadeneira F, Sala C, Salumets A, Schoemaker M, Traglia M, Waeber G, Chanock SJ, Demerath EW, Garcia M, Hankinson SE, Hu FB, Hunter DJ, Lunetta KL, Metspalu A, Montgomery GW, Murabito JM, Newman AB, Ong KK, Spector TD, Stefansson K, Swerdlow AJ, Thorsteinsdottir U, Van Dam RM, Uitterlinden AG, Visser JA, Vollenweider P, Toniolo D, Murray A.
A genome-wide association study of early menopause and the combined impact of identified
Hum Mol Genet. 2013 Apr 1;22(7):1465-72. . Epub 2013 Jan 9. PubMed Central PMCID: PMC3596848.

Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, Zhernakova A, Zhernakova DV, Veldink JH, Van den Berg LH, Karjalainen J, Withoff S, Uitterlinden AG, Hofman A, Rivadeneira F, ‘t Hoen PA, Reinmaa E, Fischer K, Nelis M, Milani L, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Nalls MA, Homuth G, Nauck M, Radke D, Völker U, Perola M, Salomaa V, Brody J, Suchy-Dicey A, Gharib SA, Enquobahrie DA, Lumley T, Montgomery GW, Makino S, Prokisch H, Herder C, Roden M, Grallert H, Meitinger T, Strauch K, Li Y, Jansen RC, Visscher PM, Knight JC, Psaty BM, Ripatti S, Teumer A, Frayling TM, Metspalu A, van Meurs JB, Franke L.
Systematic identification of trans eQTLs as putative drivers of known disease associations.
Nature Genetics. 2013 Oct;45(10):1238-43 PMID: 24013639; PMCID: PMC3991562.

Yaghootkar H, Lamina C, Scott RA, Dastani Z, Hivert MF, Warren LL, Stancáková A, Buxbaum SG, Lyytikäinen LP, Henneman P, Wu Y, Cheung CY, Pankow JS, Jackson AU, Gustafsson S, Zhao JH, Ballantyne CM, Xie W, Bergman RN, Boehnke M, El Bouazzaoui F, Collins FS, Dunn SH, Dupuis J, Forouhi NG, Gillson C, Hattersley AT, Hong J, Kähönen M, Kuusisto J, Kedenko L, Kronenberg F, Doria A, Assimes TL, Ferrannini E, Hansen T, Hao K, Häring H, Knowles JW, Lindgren CM, Nolan JJ, Paananen J, Pedersen O, Quertermous T, Smith U; the GENESIS consortium; the RISC consortium, Lehtimäki T, Liu CT, Loos RJ, McCarthy MI, Morris AD, Vasan RS, Spector TD, Teslovich TM, Tuomilehto J, Willems van Dijk K, Viikari JS, Zhu N, Langenberg C, Ingelsson E, Semple RK, Sinaiko AR, Palmer CN, Walker M, Lam KS, Paulweber B, Mohlke KL, van Duijn C, Raitakari OT, Bidulescu A, Wareham NJ, Laakso M, Waterworth DM, Lawlor DA, Meigs JB, Richards JB, Frayling TM.
Mendelian Randomisation Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes.
Diabetes. 2013 Oct;62(10):3589-98.] PubMed PMID: 23835345.

Wood AR, Perry JR, Tanaka T, Hernandez DG, Zheng HF, Melzer D, Gibbs JR, Nalls MA, Weedon MN, Spector TD, Richards JB, Bandinelli S, Ferrucci L, Singleton AB, Frayling TM.
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. 2013 May 16;8(5):e64343. PMC3655956.

Yaghootkar H, Frayling TM. Review
Recent progress in the use of genetics to understand links between type 2 diabetes and related metabolic traits.
Genome Biol. 2013 Mar 28;14(3):203. PMC3663087.

Xie W, Wood AR, Lyssenko V, Weedon MN, Knowles JW, Alkayyali S, Assimes TL, Quertermous T, Abbasi F, Paananen J, Häring H, Hansen T, Pedersen O, Smith U, Laakso M; MAGIC Investigators; DIAGRAM Consortium; GENESIS Consortium; RISC Consortium, Dekker JM, Nolan JJ, Groop L, Ferrannini E, Adam KP, Gall WE, Frayling TM, Walker M.
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
Diabetes. 2013 Jun;62(6):2141-50. PubMed Central PMCID: PMC3661655.

Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, Bustamante M, Feenstra B, Berry DJ, Thiering E, Pfab T, Barton SJ, Shields BM, Kerkhof M, van Leeuwen EM, Fulford AJ, Kutalik Z, Zhao JH, den Hoed M, Mahajan A, Lindi V, Goh LK, Hottenga JJ, Wu Y, Raitakari OT, Harder MN, Meirhaeghe A, Ntalla I, Salem RM, Jameson KA, Zhou K, Monies DM, Lagou V, Kirin M, Heikkinen J, Adair LS, Alkuraya FS, Al-Odaib A, Amouyel P, Andersson EA, Bennett AJ, Blakemore AI, Buxton JL, Dallongeville J, Das S, de Geus EJ, Estivill X, Flexeder C, Froguel P, Geller F, Godfrey KM, Gottrand F, Groves CJ, Hansen T, Hirschhorn JN, Hofman A, Hollegaard MV, Hougaard DM, Hyppönen E, Inskip HM, Isaacs A, Jørgensen T, Kanaka-Gantenbein C, Kemp JP, Kiess W, Kilpeläinen TO, Klopp N, Knight BA, Kuzawa CW, McMahon G, Newnham JP, Niinikoski H, Oostra BA, Pedersen L, Postma DS, Ring SM, Rivadeneira F, Robertson NR, Sebert S, Simell O, Slowinski T, Tiesler CM, Tönjes A, Vaag A, Viikari JS, Vink JM, Vissing NH, Wareham NJ, Willemsen G, Witte DR, Zhang H, Zhao J; Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), Wilson JF, Stumvoll M, Prentice AM, Meyer BF, Pearson ER, Boreham CA, Cooper C, Gillman MW, Dedoussis GV, Moreno LA, Pedersen O, Saarinen M, Mohlke KL, Boomsma DI, Saw SM, Lakka TA, Körner A, Loos RJ, Ong KK, Vollenweider P, van Duijn CM, Koppelman GH, Hattersley AT, Holloway JW, Hocher B, Heinrich J, Power C, Melbye M, Guxens M, Pennell CE, Bønnelykke K, Bisgaard H, Eriksson JG, Widén E, Hakonarson H, Uitterlinden AG, Pouta A, Lawlor DA, Smith GD, Frayling TM, McCarthy MI, Grant SF, Jaddoe VW, Jarvelin MR, Timpson NJ, Prokopenko I, Freathy RM; Early Growth Genetics (EGG) Consortium.
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Nat Genet.2013 Jan;45(1):76-82. PMC3605762.


Frayling TM. Commentary
Are the causes of obesity primarily environmental? No.
BMJ. 2012 Sep 11;345:e5844. PubMed PMID: 22968529.

Perry JR, Voight BF, Yengo L, Amin N, Dupuis J, Ganser M, Grallert H, Navarro P, Li M, Qi L, Steinthorsdottir V, Scott RA, Almgren P, Arking DE, Aulchenko Y,Balkau B, Benediktsson R, Bergman RN, Boerwinkle E, Bonnycastle L, Burtt NP,Campbell H, Charpentier G, Collins FS, Gieger C, Green T, Hadjadj S, Hattersley AT, Herder C, Hofman A, Johnson AD, Kottgen A, Kraft P, Labrune Y, Langenberg C, Manning AK, Mohlke KL, Morris AP, Oostra B, Pankow J, Petersen AK, Pramstaller PP, Prokopenko I, Rathmann W, Rayner W, Roden M, Rudan I, Rybin D, Scott LJ, Sigurdsson G, Sladek R, Thorleifsson G, Thorsteinsdottir U, Tuomilehto J, Uitterlinden AG, Vivequin S, Weedon MN, Wright AF; MAGIC; DIAGRAM Consortium; GIANT Consortium, Hu FB, Illig T, Kao L, Meigs JB, Wilson JF, Stefansson K, van Duijn C, Altschuler D, Morris AD, Boehnke M, McCarthy MI, Froguel P, Palmer CN, Wareham NJ, Groop L, Frayling TM*, Cauchi S*.
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. 2012 May;8(5):e1002741. Epub 2012 May31. PMCID: PMC3364960.

Stolk L, Perry JR, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, ~100 authors, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL.
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Nat Genet. 2012 Jan 22;44(3):260-8. PubMed Central PMCID: PMC3288642.

Islam M, Jafar TH, Wood AR, De Silva NM, Caulfield M, Chaturvedi N, Frayling TM.
Multiple genetic variants explain measurable variance in type 2 diabetes-related traits in Pakistanis.
Diabetologia. 2012 Apr 28. PubMed PMID: 22538361.

Warren LL, Li L, Nelson MR, Ehm MG, Shen J, Fraser DJ, Aponte JL, Nangle KL, Slater AJ, Woollard PM, Hall MD, Topp SD, Yuan X, Cardon LR, Chissoe SL, Mooser V, Morris AD, Palmer CN, Perry JR, Frayling TM, Whittaker JC, Waterworth DM.
Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation.
Diabetes. 2012 May;61(5):1297-301. Epub 2012 Mar 8. PMCID: PMC3331741.

Winney B, Boumertit A, Day T, Davison D, Echeta C, Evseeva I, Hutnik K, LeslieS, Nicodemus K, Royrvik EC, Tonks S, Yang X, Cheshire J, Longley P, Mateos P,Groom A, Relton C, Bishop DT, Black K, Northwood E, Parkinson L, Frayling TM, Steele A, Sampson JR, King T, Dixon R, Middleton D, Jennings B, Bowden R, Donnelly P, Bodmer W.
People of the British Isles: preliminary analysis ofgenotypes and surnames in a UK-control population.
Eur J Hum Genet. 2012Feb;20(2):203-10. PMCID: PMC3260910.


Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K,Silander K, Nguyen TT, Willer C, Boehnke M, Perola M, Palotie A, Salomaa V, HveemK, Frayling TM*, Hirschhorn JN*, Weedon MN*.
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.
PLoS Genet. 2011 Dec;7(12):e1002439. Epub 2011 Dec 29. PMCID: PMC3248463.

Wood AR, Hernandez DG, Nalls MA, Yaghootkar H, Gibbs JR, Harries LW, Chong S, Moore M, Weedon MN, Guralnik JM, Bandinelli S, Murray A, Ferrucci L, Singleton AB, Melzer D, Frayling TM.
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.
Hum Mol Genet. 2011 Jul 28.

Ohlsson C, Wallaschofski H, Lunetta KL, Stolk L, Perry JR, Koster A, Petersen AK, Eriksson J, Lehtimäki T, Huhtaniemi IT, Hammond GL, Maggio M, Coviello AD; EMAS Study Group, Ferrucci L, Heier M, Hofman A, Holliday KL, Jansson JO, Kähönen M, Karasik D, Karlsson MK, Kiel DP, Liu Y, Ljunggren O, Lorentzon M, Lyytikäinen LP, Meitinger T, Mellström D, Melzer D, Miljkovic I, Nauck M, Nilsson M, Penninx B, Pye SR, Vasan RS, Reincke M, Rivadeneira F, Tajar A, Teumer A, Uitterlinden AG, Ulloor J, Viikari J, Völker U, Völzke H, Wichmann HE, Wu TS, Zhuang WV, Ziv E, Wu FC, Raitakari O, Eriksson A, Bidlingmaier M, Harris TB, Murray A, de Jong FH, Murabito JM, Bhasin S, Vandenput L, Haring R.
Genetic determinants of serum testosterone concentrations in men.
PLoS Genet. 2011 Oct;7(10):e1002313. Epub 2011 Oct 6. PubMed Central PMCID: PMC3188559.

Murray A, Bennett CE, Perry JR, Weedon MN, Jacobs PA, Morris DH, Orr N, Schoemaker MJ, Jones M, Ashworth A, Swerdlow AJ; ReproGen Consortium.
Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.
Hum Mol Genet. 2011 Jan 1;20(1):186-92. Epub 2010 Oct 17. PubMed Central PMCID: PMC3000672.

Edghill EL, Khamis A, Weedon MN, Walker M, Hitman GA, McCarthy MI, Owen KR, Ellard S, T Hattersley A, Frayling TM.
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. 2011 Jun;28(6):681-4.. PMID: 21569088.

Frayling TM, Ong K. Commentary
Piecing together the FTO jigsaw.
Genome Biol. 2011 Feb
24;12(2):104. PMID: 21349207.

Rees SD, Islam M, Hydrie MZ, Chaudhary B, Bellary S, Hashmi S, O’Hare JP, Kumar S, Sanghera DK, Chaturvedi N, Barnett AH, Shera AS, Weedon MN, Basit A, Frayling TM, Kelly MA, Jafar TH.
An FTO variant is associated with Type 2 diabetes in South Asian populations after accounting for body mass index and waist circumference.
Diabet Med. 2011 Jun;28(6):673-80 PMCID:PMC3095685.

De Silva NM, Freathy RM, Palmer TM, Donnelly LA, Luan J, Gaunt T, Langenberg C, Weedon MN, Shields B, Knight BA, Ward KJ, Sandhu MS, Harbord RM, McCarthy MI, Smith GD, Ebrahim S, Hattersley AT, Wareham N, Lawlor DA, Morris AD, Palmer CN, Frayling TM.
Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance.
Diabetes. 2011 Mar;60(3):1008-18. PMCID: PMC3046819.


Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN*, Rivadeneira F, 150 additional authors Uitterlinden AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI, Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM*, Hirschhorn JN*.
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Nature. 2010 Oct 14;467(7317):832-8. PMCID: PMC2955183.

Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, Lange LA, Bradfield JP, Kerkhof M, Marsh JA, Mägi R, Chen CM, Lyon HN, Kirin M, Adair LS, Aulchenko YS, Bennett AJ, Borja JB, Bouatia-Naji N, Charoen P, Coin LJ, Cousminer DL, de Geus EJ, Deloukas P, Elliott P, Evans DM, Froguel P; Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Glaser B, Groves CJ, Hartikainen AL, Hassanali N, Hirschhorn JN, Hofman A, Holly JM, Hyppönen E, Kanoni S, Knight BA, Laitinen J, Lindgren CM; Meta-Analyses of Glucose and Insulin-related traits Consortium, McArdle WL, O’Reilly PF, Pennell CE, Postma DS, Pouta A, Ramasamy A, Rayner NW, Ring SM, Rivadeneira F, Shields BM, Strachan DP, Surakka I, Taanila A, Tiesler C, Uitterlinden AG, van Duijn CM; Wellcome Trust Case Control Consortium, Wijga AH, Willemsen G, Zhang H, Zhao J, Wilson JF, Steegers EA, Hattersley AT, Eriksson JG, Peltonen L, Mohlke KL, Grant SF, Hakonarson H, Koppelman GH, Dedoussis GV, Heinrich J, Gillman MW, Palmer LJ, Frayling TM, Boomsma DI, Davey Smith G, Power C, Jaddoe VW, Jarvelin MR; Early Growth Genetics (EGG) Consortium, McCarthy MI.
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
Nat Genet. 2010 May;42(5):430-5. PMCID: PMC2862164.

Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, ~120 authors, Loos RJ, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK, Murray A.
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Nat Genet. 2010 Dec;42(12):1077-85. PubMed Central PMCID: PMC3140055.

De Silva NM, Frayling TM. Review
Novel biological insights emerging from genetic studies of type 2 diabetes and related metabolic traits.
Curr Opin Lipidol. 2010 Feb;21(1):44-50. PMID: 19956073.

Perry JR, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, Paolisso G, Walker M, Palmer CN, Payne F, Young E, Herder C, Narisu N, Morken MA, Bonnycastle LL, Owen KR, Shields B, Knight B, Bennett A, Groves CJ, Ruokonen A, Jarvelin MR, Pearson E, Pascoe L, Ferrannini E, Bornstein SR, Stringham HM, Scott LJ, Kuusisto J, Nilsson P, Neptin M, Gjesing AP, Pisinger C, Lauritzen T, Sandbaek A, Sampson M, Zeggini ME, Lindgren CM, Steinthorsdottir V, Thorsteinsdottir U, Hansen T, Schwarz P, Illig T, Laakso M, Stefansson K, Morris AD, Groop L, Pedersen O, Boehnke M, Barroso I, Wareham NJ, Hattersley AT, McCarthy MI, Frayling TM.
Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2
Hum Mol Genet. 2010 Feb 1;19(3):535-44. PMCID: PMC2798726.

Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, Hattersley AT, Weedon MN.
Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes. 2010 Jan;59(1):266-71. PMCID: PMC2797932.


Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B.
Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.
J Clin Endocrinol Metab. 2009 Nov;94(11):4608-12. PMID: 19820008.

Perry JR, Ferrucci L, Bandinelli S, Guralnik J, Semba RD, Rice N, Melzer D; DIAGRAM Consortium, Saxena R, Scott LJ, McCarthy MI, Hattersley AT, Zeggini E, Weedon MN, Frayling TM.
Circulating beta-carotene levels and type 2 diabetes-cause or effect?
Diabetologia. 2009 Oct;52(10):2117-21. PMCID: PMC2746424.

Perry JR, Stolk L, Franceschini N, Lunetta KL, Zhai G, McArdle PF, Smith AV, Aspelund T, Bandinelli S, Boerwinkle E, Cherkas L, Eiriksdottir G, Estrada K, Ferrucci L, Folsom AR, Garcia M, Gudnason V, Hofman A, Karasik D, Kiel DP, Launer LJ, van Meurs J, Nalls MA, Rivadeneira F, Shuldiner AR, Singleton A, Soranzo N, Tanaka T, Visser JA, Weedon MN, Wilson SG, Zhuang V, Streeten EA, Harris TB, Murray A, Spector TD, Demerath EW, Uitterlinden AG, Murabito JM.
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
Nat Genet. 2009 Jun;41(6):648-50. Epub 2009 May 17. PubMed Central PMCID: PMC2942986.

Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT.
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. 2009 May 9.

Hennig BJ, Fulford AJ, Sirugo G, Rayco-Solon P, Hattersley AT, Frayling TM, Prentice AM.
FTO gene variation and measures of body mass in an African population.
BMC Med Genet. 2009 Mar 5;10:21.

Perry JR, McCarthy MI, Hattersley AT, Zeggini E; Wellcome Trust Case Control Consortium, Weedon MN, Frayling TM.
Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.
Diabetes. 2009 Jun;58(6):1463-7.

Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, Perry JR, Pouta A, Ruokonen A, Hyppönen E, Power C, Elliott P, Strachan DP, Järvelin MR, Smith GD, McCarthy MI, Frayling TM, Hattersley AT.
Type 2 diabetes risk alleles are associated with reduced size at birth.
Diabetes. 2009 Jun;58(6):1428-33. Epub 2009 Feb 19.

Ferrucci L, Perry JR, Matteini A, Perola M, Tanaka T, Silander K, Rice N, Melzer D, Murray A, Cluett C, Fried LP, Albanes D, Corsi AM, Cherubini A, Guralnik J, Bandinelli S, Singleton A, Virtamo J, Walston J, Semba RD, Frayling TM.
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. 2009 Feb;84(2):123-33. Epub 2009 Jan 29.

Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O’Rahilly S, Purmann C, Rees MG, Ridderstråle M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N; Wellcome Trust Case Control Consortium, Witteman JC, Zeggini E, Zhai G, Zillikens MC, Altshuler D, Caulfield MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin MR, Laakso M, Mooser V, Ong KK, Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I, Abecasis GR, Hirschhorn JN; Genetic Investigation of ANthropometric Traits Consortium.
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
Nat Genet. 2009 Jan;41(1):25-34. Epub 2008 Dec 14.

Webster RJ, Warrington NM, Weedon MN, Hattersley AT, McCaskie PA, Beilby JP, Palmer LJ, Frayling TM.
The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.
Diabetologia. 2009 Jan;52(1):106-14. Epub 2008 Nov 19.


Weedon MN, Frayling TM.
Reaching new heights: insights into the genetics of human stature.
Trends Genet. 2008 Dec;24(12):595-603. Epub 2008 Oct 22. Review.

Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J, Elliott P, Waeber G, Cardon L, Frayling TM, Kooner JS, Mooser V.
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
Am J Hum Genet. 2008 Oct;83(4):520-8.

Rafiq S, Melzer D, Weedon MN, Lango H, Saxena R, Scott LJ; DIAGRAM Consortium, Palmer CN, Morris AD, McCarthy MI, Ferrucci L, Hattersley AT, Zeggini E, Frayling TM.
Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
Diabetologia. 2008 Dec;51(12):2205-13. Epub 2008 Oct 14.

Pascoe L, Frayling TM, Weedon MN, Mari A, Tura A, Ferrannini E, Walker M; RISC Consortium.
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. 2008 Nov;51(11):1989-92. Epub 2008 Aug 22.

Frayling TM, Colhoun H, Florez JC.
A genetic link between type 2 diabetes and prostate cancer.
Diabetologia. 2008 Oct;51(10):1757-60. Epub 2008 Aug 12.

Lango H; UK Type 2 Diabetes Genetics Consortium, Palmer CN, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN.
Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
Diabetes. 2008 Nov;57(11):3129-35. Epub 2008 Jun 30.

Perry JR, Frayling TM.
New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function.
Curr Opin Clin Nutr Metab Care. 2008 Jul;11(4):371-7.

Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JR, Weedon MN, Singleton A, Hernandez D, Evans J, Durant C, Ferrucci L, Melzer D, Saravanan P, Visser TJ, Ceresini G, Hattersley AT, Vaidya B, Dayan CM, Frayling TM.
A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine.
J Clin Endocrinol Metab. 2008 Aug;93(8):3075-81. Epub 2008 May 20.

Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N, Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB, Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI, Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM*, Singleton A, Ferrucci L.
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
PLoS Genet. 2008 May 9;4(5)

Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI; Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O’Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L; Nurses’ Health Study, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK; Diabetes Genetics Initiative, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M; SardiNIA Study, Vogel CI, Wallace C, Waterworth DM, Weedon MN; Wellcome Trust Case Control Consortium, Willer CJ; FUSION, Wraight, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I.
Common variants near MC4R are associated with fat mass, weight and risk of obesity.
Nat Genet. 2008 Jun;40(6):768-75.

Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JR, Stevens S, Hall AS, Samani NJ, Shields B, Prokopenko I, Farrall M, Dominiczak A; Diabetes Genetics Initiative; Wellcome Trust Case Control Consortium, Johnson T, Bergmann S, Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN, Morris AD, Ouwehand WH; Cambridge GEM Consortium, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas P, Sandhu MS, Wheeler E, Soranzo N, Inouye M, Wareham NJ, Caulfield M, Munroe PB, Hattersley AT, McCarthy MI, Frayling TM.
Genome-wide association analysis identifies 20 loci that influence adult height.
Nat Genet. 2008 May;40(5):575-83.

Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L,Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jørgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjögren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ; Wellcome Trust Case Control Consortium, Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M, Altshuler D.
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Nat Genet. 2008 May;40(5):638-45.

Freathy RM, Timpson NJ, Lawlor DA, Pouta A, Ben-Shlomo Y, Ruokonen A, Ebrahim S, Shields B, Zeggini E, Weedon MN, Lindgren CM, Lango H, Melzer D, Ferrucci L, Paolisso G, Neville MJ, Karpe F, Palmer CN, Morris AD, Elliott P, Jarvelin MR, Smith GD, McCarthy MI, Hattersley AT, Frayling TM.
Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI.
Diabetes. 2008 May;57(5):1419-26.

Frayling TM.
Commentary: Genetic association studies see light at the end of the tunnel.
Int J Epidemiol. 2008 Feb;37(1):133-5. Epub 2007 Oct 5.


Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferrannini E, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, Frayling TM, Walker M; RISC Consortium; U.K. Type 2 Diabetes Genetics Consortium.
Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function.
Diabetes. 2007 Dec;56(12):3101-4.

Frayling TM, McCarthy MI.
Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here?
Diabetologia. 2007 Nov;50(11):2229-33.

Timothy M Frayling
Genome wide association studies provide new insights into type 2 diabetes aetiology.
Nature Reviews Genetics 2007 Sep;8(9):657-62

Michael N Weedon, Guillaume Lettre, Rachel M Freathy, Cecilia M Lindgren, Benjamin F Voight, John R B Perry, Katherine S Elliott, Rachel Hackett, Candace Guiducci, Beverley Shields, Eleftheria Zeggini, Hana Lango, Valeriya Lyssenko, Nicholas J Timpson, Noel P Burtt, Nigel W Rayner, Richa Saxena, Kristin Ardlie, Jonathan H Tobias, Andrew R Ness, Susan M Ring, Colin N A Palmer, Andrew D Morris, Leena Peltonen, Veikko Salomaa, The Diabetes Genetics Initiative, The Wellcome Trust Case Control Consortium, George Davey Smith, Leif C Groop, Andrew T Hattersley, Mark I McCarthy*, Joel N Hirschhorn*, Timothy M Frayling*.
A common variant of HMGA2 is associated with adult and childhood height in the general population
Nat Genet. 2007 Oct;39(10):1245-50

Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I.
Common variants in WFS1 confer risk of type 2 diabetes.
Nat Genet. 2007 Aug;39(8):951-3.

Zeggini E*, Weedon MN*, Lindgren CM*, Frayling TM*, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney ASF, The Wellcome Trust Case Control Consortium, McCarthy MI, Hattersley AT.
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
Science. 2007 Jun 1;316(5829):1336-41.

Freathy RM, Weedon MN, Bennett A, Hyppönen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, Pembrey ME, Ben-Shlomo Y, Strachan DP, Power C, Jarvelin M-R, McCarthy MI, Davey Smith G, Hattersley AT and Frayling TM.
Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals
American Journal of Human Genetics. March 2007.

Frayling TM*, Timpson NJ*, Weedon MN*, Zeggini E*, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Davey-Smith G; The Wellcome Trust Case Control Consortium; Hattersley AT, McCarthy MI.
A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity.
Science. 2007 May 11;316(5826):889-94

Rafiq S, Stevens K, Hurst AJ, Murray A, Henley W, Weedon MN, Bandinelli S, Corsi AM, Guralnik JM, Ferruci L, Melzer D, Frayling TM.
Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels.
Genes Immun. 2007 Jun;8(4):344-51.

Frayling TM, Rafiq S, Murray A, Hurst AJ, Weedon MN, Henley W, Bandinelli S, Corsi AM, Ferrucci L, Guralnik JM, Wallace RB, Melzer D.
An interleukin-18 polymorphism is associated with reduced serum concentrations and better physical functioning in older people.
J Gerontol A Biol Sci Med Sci. 2007 Jan;62(1):73-8.

The best from pre-history

Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, Voss LD, Jeffery AN, Metcalf B, Ferrucci L, Corsi AM, Murray A, Melzer D, Knight B, Shields B, Smith GD, Hattersley AT, Di Rienzo A, Frayling TM.
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. 2006 Dec;79(6):991-1001.

Weedon MN, McCarthy MI, Hitman GA, Walker M, Groves C, Shields B, Owen KR, Hattersley AT and Frayling TM.
Combining information from multiple common susceptibility polymorphisms increases the predictive power of genetic information: a study of replicated type 2 diabetes variants.
PLoS Medicine, 2006. Oct 3;3(10)

Groves CJ, Zeggini E, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Hattersley AT, McCarthy MI.
Association analysis of 7000 UK subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene capable of doubling diabetes risk.
Diabetes 2. 2006 Sep;55(9):2640-4.

Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L,Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J,Byberg L, Mann V, Axelsson T, Syvanen AC, Leon D, Hattersley AT.
Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.
Diabetes. 2005 Feb;54(2):576-81.

Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM.
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. 2003 Feb; 52(2): 568-72.

Minton JA, Hattersley AT, Owen K, McCarthy MI, Walker M, Latif F, BarrettT, Frayling TM.
Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.
Diabetes. 2002 Apr; 51(4): 1287-90.

Macfarlane WM*, Frayling TM*, Ellard S, Evans JC, Allen LI, Bulman MP, AyresS, Shepherd M, Clark P, Millward A, Demaine A, Wilkin T, Docherty K, HattersleyAT.
Missense mutations in the insulin promoter factor-1 gene predispose to type 2diabetes.
J Clin Invest. 1999 Nov; 104(9): R33-9.