Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

被引：345

作者：

Fisher, Sheila A. ^{[2
]}

Tremelling, Mark ^{[3
]}

Anderson, Carl A. ^{[4
]}

Gwilliam, Rhian ^{[5
]}

Bumpstead, Suzannah ^{[5
]}

Prescott, Natalie J. ^{[2
]}

Nimmo, Elaine R. ^{[1
]}

Massey, Dunecan ^{[3
]}

Berzuini, Carlo ^{[3
]}

Johnson, Christopher ^{[3
]}

Barrett, Jeffrey C. ^{[4
]}

Cummings, Fraser R. ^{[6
]}

Drummond, Hazel

Lees, Charlie W. ^{[1
]}

Onnie, Clive M. ^{[2
]}

Hanson, Catherine E. ^{[7
]}

Blaszczyk, Katarzyna ^{[2
]}

Inouye, Mike ^{[5
]}

Ewels, Philip ^{[5
]}

Ravindrarajah, Radhi ^{[5
]}

Keniry, Andrew ^{[5
]}

Hunt, Sarah ^{[5
]}

Carter, Martyn ^{[8
]}

Watkins, Nick ^{[9
]}

Ouwehand, Willem ^{[9
]}

Lewis, Cathryn M. ^{[2
]}

Cardon, Lon ^{[4
]}

Lobo, Alan

Forbes, Alastair ^{[10
]}

Sanderson, Jeremy ^{[11
]}

Jewell, Derek P. ^{[6
]}

Mansfield, John C. ^{[7
]}

Deloukas, Panos ^{[5
]}

Mathew, Christopher G. ^{[2
]}

Parkes, Miles ^{[3
]}

Satsangi, Jack ^{[1
]}

机构：

[1] Univ Edinburgh, Western Gen Hosp, Gastrointestinal Unit, Div Med Sci,Sch Mol & Clin Med, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Guys Hosp, Dept Med & Mol Genet, Univ London Kings Coll, Sch Med, London SE1 9RT, England

[3] Univ Cambridge, Addenbrookes Hosp, Inflammatory Bowel Dis Res Grp, Cambridge CB2 2QQ, England

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

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

[6] Univ Oxford, Radcliffe Infirm, Gastroenterol Unit, Oxford OX2 6HE, England

[7] Newcastle Univ, Royal Victoria Infirm, Dept Gastroenterol & Hepatol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

[8] Univ Sheffield, Sch Med, Royal Hallamshire Hosp, Div Mol & Genet Med, Sheffield S10 2JF, S Yorkshire, England

[9] Univ Cambridge, Dept Haematol, Natl Blood Serv Ctr, Cambridge CB2 2PT, England

[10] UCL Hosp Trust, Inst Digest Dis, London NW1 2BU, England

[11] Guys & St Thomas NHS Fdn Trust, Dept Gastroenterol, London SE1 7EH, England

来源：

NATURE GENETICS | 2008年 / 40卷 / 06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/ng.145

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.

引用

页码：710 / 712

页数：3

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