Publications

2008

Zeggini E, Scott LJ, Saxena R, Voight BF, the DIAGRAM Consortium. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat. Genet. 2008; 40:638-45.

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 ASF, 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 IM, KORA, Herrera B, Hinney A, Hunt SE, Jarvelin M-J, Johnson T, Jolley JDM, Karpe F, Keniry K, Khaw K-T, Luben RN, Mangino M, Marchini JL, 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, C. 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, The 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 samples demonstrate that common variants near to MC4R influence fat mass, weight and risk of obesity. Nat. Genet. 2008;40:768-75.

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;57:1419-26.

2007

Boraska V, Škrabić V, Zeggini E, Groves CJ, Buljubašić M, Peruzović M, Zemunik T. Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia. J Hum Genet 2007;53:210-4.

Wiltshire S, Morris AP, Zeggini E. Examining the statistical properties of fine-scale mapping in large-scale association studies. Genet Epidemiol 2007;32:204-14.

Zeggini E, McCarthy MI. Identifying susceptibility variants for type 2 diabetes. Methods Mol Biol 2007;376:235-50.

The Wellcome Trust Case Control Consortium. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.
Nat Genet 2007;39(11):1329-37.

Zeggini E. A new era for type 2 diabetes genetics. Diabet Med 2007, in press.

McCarthy MI, Zeggini E. Genome-wide association scans for type 2 diabetes: new insights into biology and therapy. Trends Pharmacol Sci 2007, in press.

Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferraninni E, The RISC Consortium, Hitman GA, The UK Type 2 Diabetes Genetics Consortium, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, Frayling TM, Walker M. Common variants of the novel type 2 diabetes genes, CDKAL1 and HHEX/IDE, are associated with decreased pancreatic b -cell function. Diabetes 2007, in press.

Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JRB, Elliott KS, Hackett R, Guiducci C, Shields S, 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. Nat Genet 2007, in press.

Barber TM, Bennett AJ, Gloyn AL, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Weedon MN, Hartikainen A, Wass JAH, Järvelin M, Zeggini E, Franks S, McCarthy MI. Relationship between variants within transcription factor 7-like 2 (TCF7L2), polycystic ovary syndrome and androgen levels. Diabetologia 2007, in press.

The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447(7145):661-78.

Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JB, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JM, 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 U.K. samples reveals risk loci for type 2 diabetes. Science 2007;316(5829):1336-41.

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(5826):889-94.

Barber TM, Bennett AJ, Gloyn AL, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Weedon MN, Hartikainen A-L, Wass JAH, Järvelin M-R, Zeggini E, Franks S, McCarthy MI. Analysis of multiple data sets reveals no association between the KCNJ11 E23K variant and polycystic ovary syndrome. Eur J Hum Genet 2007;15(6):679-84.

Chu WS, Das SK, Wang H, Chan JC, Deloukas P, Froguel P, Baier LJ, Hanson RL, Jia W, McCarthy MI, Ng MCY, Shuldiner AR, Zeggini E, Elbein SC. Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits. Diabetes 2007;56(3):856-62.

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(3):879-83.

Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Walker M, Holman RR, McCarthy MI, Gillespie K, Bingley P, Hitman GA, Clark A. An association analysis of the HLA gene region in latent autoimmune diabetes in adults. Diabetologia 2007;50(1):68-73.

Zeggini E, McCarthy MI. TCF7L2: the biggest story in diabetes genetics since HLA? Diabetologia 2007;50(1):1-4.

2006

Calle R, McCarthy MI, Banerjee P, Zeggini E, Cull C, Thorne K, Wiltshire S, Terra S, Meyer D, Richmond J, Mancuso J, Milos P, Fryburg D, Holman R. Paraoxonase 2 (PON2) polymorphisms and development and progression of diabetic nephropathy in UKPDS patients. Diabetologia 2006;49(12):2892-9.

Weedon MN, McCarthy MI, Hitman GA, Walker M, Groves CJ, Zeggini E, Rayner NW, Shields B, Owen KR, Hattersley AT, 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;3(10):e374.

Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Halle 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. 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(9):2541-8.

Das SK, Chu WS, Hale TC, Wang X, Craig RL, Wang H, Shuldiner AR, Froguel P, Deloukas P, McCarthy MI, Zeggini E, Hasstedt SJ, Elbein SC. Polymorphisms in the glucokinase-associated, dual specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetes. Diabetes 2006;55(9):2631-9.

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(9):2640-4.

Groves CJ. Zeggini E, Walker M, Hitman GA, Levy JC, O’Rahilly S, Hattersley AT, McCarthy MI, Wiltshire S. Significant linkage of body mass index to chromosome 10p in the UK population and evaluation of glutamate decarboxylase 2 (GAD2) as a positional candidate. Diabetes 2006;55(6):1884-9.

McCarthy MI, Zeggini E. Genetics of type 2 diabetes. Curr Diab Rep 2006; 6(2):147-54.

Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Hitman GA, Walker M, Holman RR, McCarthy MI, Clark A. The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults. Diabetes 2006;55(6):1890-4.

Zeggini E, Packham J, Donn R, Wordsworth P, Hall A, Thomson W. Association of HLA-DRB1*13 with susceptibility to uveitis in juvenile idiopathic arthritis in two independent datasets. Rheumatology 2006;45(8):972-4.

2005

Zeggini E, Rayner W, Morris A, Hattersley A, Walker M, Hitman G, Deloukas P, Cardon L, McCarthy M. An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet 2005;37(12):1320-2.

Shephard N, John S, Cardon L, McCarthy MI, Zeggini E. Will the real disease gene please stand up? BMC Genet 2005;6:S66.

Zeggini E, Parkinson JRC, Halford S, Owen KR, Walker M, Hitman GA, Levy JC, Sampson MJ, Frayling TM, Hattersley AT, McCarthy MI. Examining the relationships between the Pro12Ala variant in PPARG and type 2 diabetes-related traits in UK samples. Diabet Med 2005;22(12):1696-700.

Gibbons L, Thomson W, Zeggini E, Worthington J, Barton A, Eyre S, Donn R, Hinks A. The type 1 diabetes susceptibility gene SUMO4 at IDDM5 is not associated with susceptibility to rheumatoid arthritis or juvenile idiopathic arthritis. Rheumatology 2005;44(11):1390-3.

Zeggini E, Groves C, Parkinson J, Halford S, Owen K, Frayling T, Walker M, Hitman G, Levy J, O’Rahilly S, Hattersley A, McCarthy M. Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia 2005;48(10):2013-7.

Zeggini E, Barton A, Eyre S, Ward D, Ollier W, Worthington J, John S. Characterisation of the genomic architecture of chromosome 17q and evaluation of different methods for haplotype block definition. BMC Genet 2005;6(1):21-31.

Amoli MM, Salway F, Zeggini E, Ollier W, Gonzalez-Gay M. MCP-1 gene haplotype association in biopsy proven giant cell arteritis. J Rheumatol 2005;32(3):507-10.

Powell B, Haddad L, Bennett A, Gharani N, Sovio U, Groves C, Rush K, Goh M, Conway G, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen A, Halford S, Zeggini E, Jarvelin M, Franks S, McCarthy M. Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits. J Clin Endocrinol Metab 2005;90(5):2988-93.

Lamb R, Zeggini E, Thomson W, Donn R. Toll-like receptor 4 gene polymorphisms and susceptibility to juvenile idiopathic arthritis. Ann Rheum Dis 2005;64(5):767-9.

2004

Zeggini E, Parkinson J, Halford S, Owen K, Frayling T, Walker M, Hitman G, Levy J, Sampson M, Feskens E, Hattersley A, McCarthy M. Association studies of insulin receptor substrate 1 gene variants in type 2 diabetes samples enriched for family history and early age of onset. Diabetes 2004;53(12)3319-22.

Liew C, Groves C, Wiltshire S, Zeggini E, Frayling T, Owen K, Walker M, Hitman G, Levy J, O’Rahilly S, Hattersley A, Johnston D, McCarthy M. Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearocyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia 2004;47(12):2168-75.

Brintnell W, Zeggini E, Barton A, Thomson W, Eyre S, Hinks A, Silman A, Worthington J. Evidence for a novel rheumatoid arthritis susceptibility locus on chromosome 6p. Arthritis Rheum 2004;50(12)3823-30.

Amoli MM, Gonzalez-Gay M, Zeggini E, Salway F, Garcia-Porrua C, Ollier W. Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis. J Rheumatol 2004;31(12):2413-7.

Zeggini E, Reginato A, Prais A, Thomson W, McLean W, Donn R, the BPRG Study Group. Linkage and association studies of discoidin domain receptor 1 single nucleotide polymorphisms in juvenile oligoarthritis. Rheumatology 2004;43(9):1138-41.

John S, Shephard N, Liu G, Zeggini E, Cao M, Chen W, Vasavda N, Mills T, Barton A, Hinks A, Eyre S, Jones K, Ollier W, Silman W, Gibson N, Worthington J, Kennedy G. Whole-genome scan, in a complex disease, using 11,245 single nucleotide polymorphisms: comparison with microsatellites. Am J Hum Genet 2004;75(1):54-64.

Donn R, Alourfi Z, Zeggini E, Lamb R, Jury F, Lunt M, the BPRG Study Group, Meazza C, de Benedetti F, Thomson W, Ray D. A functional promoter haplotype of MIF is linked and associated with juvenile idiopathic arthritis. Arthritis Rheum 2004;50(5);1604-10.

Barton A, Platt H, Salway F, Symmons D, Barrett E, Bukhari M, Lunt M, Zeggini E, Eyre S, Hinks A, Ward D, Brintnell B, Ollier W, Worthington J, Silman A. Polymorphisms in the tumour necrosis factor gene are not associated with severity of inflammatory polyarthritis. Ann Rheum Dis 2004;63(3):280-4.

Stevens A, Ray D, Zeggini E, John S, Richards H, Griffiths C, Donn R. Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype. J Clin Endocrinol Metab 2004;89(2):892-7.

2003

Shephard N, Falcaro M, Zeggini E, Chapman P, Hinks A, Barton A, Worthington J, Pickles A, John S. Linkage and association analysis of alternative phenotypic measures to identify loci influencing blood pressure. BMC Genet 2003;4:S26.

2002

Zeggini E, Thomson W, Kwiatkowski D, Richardson A, Ollier W, the BPRG Study Group, Donn R. Linkage and association studies of single nucleotide polymorphism-tagged tumour necrosis factor haplotypes in juvenile oligoarthritis. Arthritis Rheum 2002;46(12):3304-11.

Zeggini E, Donn R, Ollier W, the BPRG Study Group, Thomson W. Evidence for linkage and association of HLA to juvenile oligoarthritis: independent effects of HLA-A and HLA-DRB1. Arthritis Rheum 2002;46(10):2716-20.

Donn R, Alourfi Z, De Benedetti F, Meazza C, Zeggini E, Lunt M, Stevens A, Shelley E, Lamb R, The BPRG Study Group, Ollier W, Thomson W, Ray D. Mutation screening of the macrophage migration inhibitory factor (MIF) gene: Positive association of a functional polymorphism with juvenile idiopathic arthritis. Arthritis Rheum 2002;46(9):2402-9.

Zeggini E, Thomson W, Alansari A, Ollier W, Donn R. Tumour necrosis factor II polymorphism and juvenile idiopathic arthritis. Rheumatology 2002;41(4):462-5.

Donn R, Zeggini E, Shelley E, Ollier W, Thomson W. Lack of association between juvenile idiopathic arthritis and fas gene polymorphism. J Rheumatol 2002;29(1):166-8.

2001

Dixon JA, Reynolds I, Zeggini E, Tullo AB, Hillarby MC. Fas mRNA expression in blood is reduced during episodes of human corneal graft rejection. Transplantation 2001;71(5):702-5.