Wellcome Trust Centre for Human Genetics - Selected Recent Publications

Selected Recent Publications

Zeggini E, Rayner W, Morris A, Hattersley A, Walker M, Hitman G, Deloukas P, Cardon L, McCarthy MI. HapMap sample size and tagging SNP performance: an evaluation in large-scale empirical and simulated data sets. Nature Genetics 2005;37:1320-1322 PMID: 16258542
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, McCarthy MI. Association analysis of 6736 UK subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes 2006;55:2640-2644. PMID: 16936215
Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LK, Hale TC, Hattersley AT, Hitman GA, Hunt SE, Knowler WC, Mitchell BD, Ng MCY, O'Connell JR, Pollin TI, Vaxillaire M, Walker M, Wang X, Whittaker P, Xiang K, Jia W, Chan JCN, Froguel P, Deloukas P, Shuldiner AR, ELbein SC, McCarthy MI for the International 1q Type 2 diabetes Consortium. Variation within the gene encoding the Upstream Stimulatory Factor 1 (USF1) does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes 2006:55;2541-2548 PMID: 16936202
Owen KR, Groves CJ, Hanson RL, Knowler WC, Shuldiner AR, Elbein SC, Mitchell BD, Froguel P, Ng MCY, Chan JC, Jia W, Deloukas P, The International type 2 diabetes 1q consortium, Hitman GA, Walker M, Frayling TM, Hattersley AT, Zeggini E, McCarthy MI. Common variation in the LMNA gene (encoding Lamin A/C) and type 2 diabetes: association analyses in 9518 subjects. Diabetes 2007;56:879-883 PMID: 17327460
Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Bengtsson Boström K, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L, Altshuler D. Evaluation Of Common Variants In The Six Known Mody Genes For Association With Type 2 Diabetes. Diabetes 2007;56:685-693 PMID: 17327436
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch A-M, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin M-R, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJF, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CNA, Doney ASF, 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;316:889-894 PMID: 17434869
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 316:1336-1341. PMID: 17463249
The Wellcome Trust Case Control Consortium. Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-678 PMID:17554300
Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann R, Pharoah PD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I. WFS1 is a type 2 diabetes susceptibility gene. Nature Genetics 2007;39:951-953. PMID: 17603484
Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JRB, Elliott KS, Hackett R, Guiducci C, Shields B, Zeggini E, Lango H, Lyssenko V, Timpson NJ, Burtt NP, Rayner NW, Saxena R, Ardlie K, Tobias JH, Ness AR, Ring SM, Palmer CNA, Morris AD, Peltonen L, Salomaa V, The Diabetes Genetics Initiative, The Wellcome Trust Case Control Consortium, Davey Smith G, Groop LC, Hattersley AT, McCarthy MI, Hirschhorn JN, Frayling TM. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nature Genetics 2007;39:1245-1250 PMID: 17767157
Wellcome Trust Case Control Consortium and The Australo-Anglo-American Spondylitis Consortium. Association scan of 14,500 nsSNPs in four common diseases identifies variants involved in autoimmunity. Nature Genetics 2007;39:1329-1337 PMID: 17952073
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, De Bakker PW, Abecasis GR, Almgren P, Andersen G, Ardlie K, Bostrom KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding C, Doney ASF, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup, Groves CJ, Giuducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jorgensen 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 CNA, Payne F, Perry JRB, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjogren 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 FN, 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 several additional susceptibility loci for type 2 diabetes Nature Genetics 2008; 40:638-645 PMID: 18372903
Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JRB, Stevens S, Hall AS, Samani NJ, Shields B, Prokopenko I, Farrall M, Dominiczak A, Diabetes Genetics Initiative, The Wellcome Trust Case Control Consortium, Johnson T, Bergmann S, Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CNA, Morris AD, Ouwehand WH, Cambridge GEM Consortium, Caulfield M, Munroe PB, Hattersley AT, McCarthy MI, Frayling TM. Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genetics 2008;40:575-583 PMID: 18391952
Loos RJF, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI, The Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Davey Smith G, Day I, Dina C, De S, Dermitzakis ET, Doney ASD, Elliott KS, Elliott P, Evans DM, Farooqi IS, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid RM, KORA, Herrera B, Hinney A, Hunt SE, Jarvelin M-R, Johnson T, Jolley JDM, Karpe F, Keniry A, Khaw K-T, Luben RN, Mangino MN, 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 CNA, 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 CIG, Wallace C, Waterworth DM, Weedon MN, The Wellcome Trust Case Control Consortium, Willer CJ, FUSION, Wraight VL, 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*. Association studies involving over 90,000 people demonstrate that common variants near to MC4R influence fat mass, weight and risk of obesity. Nature Genetics 2008;40:768-775 PMID: 18454148
McCarthy MI, Abecasis G, Cardon LR, Little J, Ioannidis JPA, Goldstein DB, Hirschhorn JN. Genome wide association studies for complex traits: consensus, uncertainty and challenges. Nature Reviews Genetics 2008;9:356-369 PMID: 18398418
McCarthy MI. News and Views: Casting a wider net for diabetes-susceptibility genes. Nature Genetics 2008, 40, 1039-1040 PMID: 18728687
Lango H, The UK Type 2 Diabetes Genetics Consortium, Palmer CNA, 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;57:3129-3135 PMID: 18591388
McCarthy MI, Hirschhorn JN. Genome-wide association studies: potential next steps on a genetic journey Human Molecular Genetics 2008, 17 (R2); R156-R165 PMID: 18852205
Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJF, Manning AK, Jackson AU, Aulchenko Y, Potter SC, Erdos MR, Sanna S, Hottenga J-J, Wheeler E, Kaakinen M, Lyssenko V, Chen W-M, Ahmadi K, Beckmann JS, Bergman RN, Bochud M, Bonnycastle LL, Buchanan TA, Cao A, Cervino A, Coin L, Collins FS, Crisponi L, De Geus EJC, Dehghan A, Deloukas P, Doney ASF, Elliott P, Freimer N, Gateva V, Herder C, Hofman A, Hughes TE, Hunt S, Illig T, Inouye M, Isomaa B, Johnson T, Kong A, Krestyaninova M, Kuusisto J, Laakso M, Lim N, Lindblad U, Lindgren CM, McCann OT, Mohlke KL, Morris AD, Naitza S, Orru M, Palmer CNA, Pouta A, Randall J, Rathmann W, Saramies J, Scheet P, Scott LJ, Scuteri A, Sharp S, Sijbrands E, Smit JH, Song K, Steinthorsdottir V, Stringham HM, Tuomi T, Tuomilehto J, Uitterlinden AG, Voight BF, Waterworth D, Wichmann H-E, Willemsen G, Witteman JCM, Yuan X, Zao JH, Zeggini E, Schlessinger D, Sandhu M, Boomsma D, Uda M, Spector TD, Penninx BWJH, Altshuler D, Vollenweider P, Jarvelin M-R, Lakatta E, Waeber G, Fox CS, Peltonen L, Groop LC, Mooser V, Cupples LA, Thorsteinsdottir U, Boehnke M, Barroso I, van Duijn C, Dupuis J, Watanabe RM, Stefansson K, McCarthy MI, Wareham NJ, Meigs JB, Abecasis GR. Variants in the melatonin receptor 1B gene (MTNR1B) influence fasting glucose levels. Nature Genetics 2009;41:77-81 PMID: 19060907
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jacskon AU, Lettre G, Lyon HN, McCarroll SA, Qi L, Roccasecca RM, Sanna S, Scheet P, Tanaka T, Weedon MN, Wheeler E, Zhao JH, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chinese P, Coin L, Collins FS, Connell HM, Cooper C, Davey Smith G, 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, Jacobs L, Johnson T, Jousilahti P, Javanovic Z, Khaw K-T, Kraft P, Kuokkannen M, Kuusisto J, Laitinen J, Lakatta EG, Lamina C, Lim N, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Papadakis K, Prokopenko I, Purmann C, Randall JC, Rees M, Ridderstrale M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Soranzo N, Stephens J, Stevens S, Stringham HM, Timpson NJ, Tung YCL, Valle TT, Van Duijn CN, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N, Wellcome Trust Case Control Consortium, Witteman JCM, Zeggini E, Zhai G, Zillikens MC, Altshuler D, Caulfiled MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin M-R, 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 E, McCarthy MI*, Boehnke M*, Barroso I*, Abecasis GR*, Hirschhorn JN*. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics 2009;41:25-34 PMID: 19079261
Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid I, Pramstaller PP, Penninx BWJH, Janssens ACJW, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin M-R, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A, Hastie N, Pichler I, Hicks A, Falchi M, Willemsen G, Hottenga J-J, de Geus EJC, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJG, Uitterlinden AG, WItteman JCM, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Doring A, Wichmann H-E, Smit JH, McCarthy MI, van Duijn CM, Peltonen L for the ENGAGE consortium. A genome-wide association study in 16 European population cohorts reveals major loci influencing lipid levels and coronary heart disease risk. Nature Genetics 2009;41:47-55 PMID: 19060911
Sabatti C, Service SK, Hartikainen A-L, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, Hoggart C, Collins A, Turunen H, Gabriel S, Elliott P, McCarthy MI, Daly MJ, Jarvelin M-R, Freimer NB, Peltonen L. Genomewide association analysis of metabolic traits in a birth cohort from a founder population. Nature Genetics 2009;41:35-46 PMID: 19060910
Timpson NH, Lindgren CM, Weedon MN, Randall J, Ouwehand WH, Strachan DP, Rayner NW, Walker M, Hitman GA, Doney ASF, Palmer CNA, Morris AD, Hattersley AT, Zeggini E, Frayling TM, McCarthy MI. Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. Diabetes 2009;58:505-510 PMID: 19056611
Meyre D, Delplanque J, Chevre J-C, Lecoeur C, Lobbens S, Gallina S, Durand E, Vatin V, Degraeve F, Cavalcanti-Proença C, Gaget S, Körner A, Kovacs P, Kiess W, Tichet J, Marre M, Hartikainen A-L, Horber F, Potoczna N, Hercberg S, Levy-Marchal C, Pattou F, Heude B, Tauber M, McCarthy MI, Blakemore A, Montpetit A, Polychronakos C, Weill J, Coin L, Elliott P, Balding D, Jarvelin M-R, Visvikis-Siest S, Balkau B, Sladek R, Walley A, Dina C, Froguel P. Genome-wide association study identifies new loci for severe polygenic obesity in European populations. Nature Genetics 2009;41:157-159. PMID: 19151714
Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor J, Hoggart C, Coin L, Whittaker J, Pouta A, Hartikainen A-L, Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI, Jarvelin M-R. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the Northern Finland Birth Cohort 1966. PLoS Genetics 2009;5:e1000409 PMID: 19266077
Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, Frayling TM, Groves CJ, Gwilliam R, Scott LJ, Voight BF, Hattersley AT, Hu C, Morris AD, Ng M, Palmer CN, Tello-Ruiz M, Vaxillaire M, Wang CR, Stein L, Chan J, Jia W, Froguel P, Elbein SC, Deloukas P, Bogardus C, Shuldiner AR, McCarthy MI: Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes, 2009 PMID: 19389826
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, Papadakis K, Voight BF, Scott LJ, Zhang F, Farrall M, Tanaka T, Wallace C, Chambers JC, Khaw K-T, Nilsson P, van der Harst P, Polidoro S, Grobbee DE, Onland-Moret NC, Bots ML, Wain LV, Elliott KS, Teumer A, Luan J, Lucas G, Kuusisto J, Burton PR, Hadley D, McArdle WL, Wellcome Trust Case Control Consortium, Brown M, Dominiczak A, Newhouse SJ, Samani NJ, Webster J, Zeggini E, Beckmann JS, Bergmann S, Lim N, Song K, Vollenweider P, Waeber G, Waterworth DM, Yuan X, Groop L, Orho-Melander M, Allione A, Di Gregorio A, Guarrera S, Panico S, Ricceri F, Romanazzi V, Sacerdote C, Vineis P, Barroso I, Sandhu MS, Luben RN, Boehnke M, Bonnycastle LL, Collins FS, Jackson AU, Mohlke KL, Stringham HM, Valle TT, Willer CJ, Bergman RN, Morken MA, Döring A, Gieger C, Illig T, Lichtner P, Meitinger T, Org E, Wichmann HE, Kathiresan S, Marrugat J, O'Donnell CJ, Salomaa V, Schwartz SM, Siscovick DS, Subirana I, Freimer NB, Hartikainen A-L, McCarthy MI, O'Reilly PF, Peltonen L, Pouta A, De Jong PE, Snieder H, van Gilst WH, Clarke R, Goel A, Hamsten A, Peden JF, Seedorf U, Syvänen A-C, Tognoni G, Lakatta EG, Sanna S, Scheet P, Schlessinger D, SCuteri A, Dörr M, Ernst F, Felix SB, Homuth G, Lorbeer R, Reffelmann T, Rettig R, Völker U, Galan P, Gut IG, Hercberg S, Lathrop GM, Zeleneka D, DEloukas P, Soranzo N, Williams FM, Zhai G, Laakso M, Elosua R, Forouhi NG, Völzke H, Uiterwaal CS, van der Schouw YT, Numans ME, Matullo G, Navis G, Berglund G, Bingham SA, Kooner JS, Paterson AD, Connell JM, Bandinelli S, Ferrucci L, Watkins H, SPector TD, Tuomilehto J, Altshuler D, Strachan D, Laan M, Meneton P, Wareham NJ, Uda M, Jarvelin M-R, Mooser V, Melander O, Loos RJF, Elliott P, Abecasis GR, Caulfield M, Munroe PB. Seven blood pressure loci identified by genomewide association study of 34,433 people of European ancestry. Nature Genetics (in press)
Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban H-J, Yoon D, Cha S-H, Lee MH, Kim J-W, Han B-G, Min H, Ahn Y, Park MS, Han HR, Jang H-Y, Cho E-Y, Lee J-E, Cho N, Shin C, Park T, Park JW, Lee J-K, Cardon LR, Clarke G, McCarthy MI, Lee J-Y, Lee J-K, Oh B, Kim H-L. Genome-wide association study of 10,000 individuals uncovers genetic factors influencing the personal differences in quantitative population-based traits. Nature Genetics (in press)

Selected Recent Publications

McCarthy