Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

被引：366

作者：

Mells, George F. ^{[1
,2
]}

Floyd, James A. B. ^{[3
]}

Morley, Katherine I. ^{[3
,4
]}

Cordell, Heather J. ^{[5
]}

Franklin, Christopher S. ^{[3
]}

Shin, So-Youn ^{[3
]}

Heneghan, Michael A. ^{[6
]}

Neuberger, James M. ^{[7
]}

Donaldson, Peter T. ^{[8
]}

Day, Darren B. ^{[1
]}

Ducker, Samantha J. ^{[8
]}

Muriithi, Agnes W. ^{[1
]}

Wheater, Elizabeth F. ^{[1
]}

Hammond, Christopher J. ^{[9
]}

Dawwas, Muhammad F.

Jones, David E. ^{[8
]}

Peltonen, Leena ^{[3
]}

Alexander, Graeme J. ^{[2
]}

Sandford, Richard N. ^{[1
]}

Anderson, Carl A.

机构：

[1] Univ Cambridge, Acad Dept Med Genet, Cambridge, England

[2] Univ Cambridge, Hosp Natl Hlth Serv NHS Fdn Trust, Dept Hepatol, Cambridge, England

[3] Wellcome Trust Sanger Inst, Cambridge, England

[4] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Sch Populat Hlth, Melbourne, Vic, Australia

[5] Univ Newcastle, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

[6] Kings Coll London, Inst Liver Studies, Hosp NHS Fdn Trust, London WC2R 2LS, England

[7] Queen Elizabeth Hosp, Liver Unit, Birmingham B15 2TH, W Midlands, England

[8] Univ Newcastle, Sch Med, Inst Cellular Med, Newcastle Upon Tyne, Tyne & Wear, England

[9] Kings Coll London, Dept Twin Res & Genet Epidemiol, London WC2R 2LS, England

来源：

NATURE GENETICS | 2011年 / 43卷 / 04期

基金：

英国惠康基金; 美国国家卫生研究院;

关键词：

VARIANTS; PATHOGENESIS; GENE; TOOL; HLA;

D O I：

10.1038/ng.789

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840 cases from the UK PBC Consortium and 5,163 UK population controls as part of the Wellcome Trust Case Control Consortium 3 (WTCCC3). We followed up 28 loci in an additional UK cohort of 620 PBC cases and 2,514 population controls. We identified 12 new susceptibility loci (at a genome-wide significance level of P < 5 x 10(-8)) and replicated all previously associated loci. We identified three further new loci in a meta-analysis of data from our study and previously published GWAS results. New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC.

引用

页码：329 / U151

页数：5

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