A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

被引：491

作者：

van Heel, David A. ^{[1
]}

Franke, Lude

Hunt, Karen A.

Gwilliam, Rhian

Zhernakova, Alexandra

Inouye, Mike

Wapenaar, Martin C.

Barnardo, Martin C. N. M.

Bethel, Graeme

Holmes, Geoffrey K. T.

Feighery, Con

Jewell, Derek

Kelleher, Dermot

Kumar, Parveen

Travis, Simon

Walters, Julian R. F.

Sanders, David S.

Howdle, Peter

Swift, Jill

Playford, Raymond J.

McLaren, William M.

Mearin, M. Luisa

Mulder, Chris J.

McManus, Ross

McGinnis, Ralph

Cardon, Lon R.

Deloukas, Panos

Wijmenga, Cisca

机构：

[1] Queen Mary Univ London, Inst Cell & Mol Sci, Ctr Gastroenterol, London E1 2AT, England

[2] Univ Utrecht, Med Ctr, Ctr Biomed Genet, Complex Genet Sect, NL-3584 CG Utrecht, Netherlands

[3] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[4] Univ Groningen, Med Ctr, Dept Genet, NL-9700 RB Groningen, Netherlands

[5] Churchill Hosp, Oxford Transplant Ctr, Oxford OX3 7LJ, England

[6] Derbyshire Royal Infirm, Dept Gastroenterol, Derby DE1 2QY, England

[7] Univ Dublin Trinity Coll, Inst Mol Med, Dept Clin Med, Dublin 2, Ireland

[8] Univ Dublin Trinity Coll, Inst Mol Med, Dept Immunol, Dublin 2, Ireland

[9] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[10] Univ Oxford, Gastroenterol Unit, Oxford OX3 7BN, England

[11] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Gastroenterol Sect, London W12 0HS, England

[12] Royal Hallamshire Hosp, Dept Gastroenterol, Sheffield S10 2JF, S Yorkshire, England

[13] Royal Hallamshire Hosp, Liver Unit, Sheffield S10 2JF, S Yorkshire, England

[14] St James Univ Hosp, Dept Gastroenterol, Leeds LS9 7TF, W Yorkshire, England

[15] Llandough Hosp, Dept Gastroenterol, Penarth CF64 2XX, S Glam, Wales

[16] Leiden Univ, Med Ctr, Dept Paediat Gastroenterol, NL-2300 RC Leiden, Netherlands

[17] Vrije Univ Amsterdam, Med Ctr, Dept Pediat Gastroenterol, NL-1007 MB Amsterdam, Netherlands

[18] Vrije Univ Amsterdam, Med Ctr, Dept Gastroenterol, NL-1007 MB Amsterdam, Netherlands

来源：

NATURE GENETICS | 2007年 / 39卷 / 07期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/ng2058

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding ( rs13119723; P = 2.0 x 10(-7)) was in the KIAA1109- TENR- IL2- IL21 linkage disequilibrium block. We independently confirmed association in two further collections ( strongest association at rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 x 10(- 14), odds ratio 0.63), suggesting that genetic variation in this region predisposes to celiac disease.

引用

页码：827 / 829

页数：3

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