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

被引：487
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：
英国惠康基金; 英国医学研究理事会;
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
收藏
页码：827 / 829
页数：3
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