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

Lookup NU author(s): Professor Heather Cordell, Dr Peter Donaldson, Samantha Ducker, Professor David Jones


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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.

Publication metadata

Author(s): Mells GF, Floyd JAB, Morley KI, Cordell HJ, Franklin CS, Shin SY, Heneghan MA, Neuberger JM, Donaldson PT, Day DB, Ducker SJ, Muriithi AW, Wheater EF, Hammond CJ, Dawwas MF, Jones DE, Peltonen L, Alexander GJ, Sandford RN, Anderson CA

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2011

Volume: 43

Issue: 4

Pages: 329-U151

Print publication date: 13/03/2011

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group


DOI: 10.1038/ng.789


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Funder referenceFunder name
Isaac Newton Trust
Raymond and Beverly Sackler Studentship
NIHR comprehensive Biomedical Research Centre
PBC Foundation
085925/Z/08/ZWellcome Trust
1RO1EY018246US National Institutes of Health National Eye Institute
WT91745/Z/10/ZWellcome Trust
WT090355/A/09/ZWellcome Trust
WT090355/B/09/ZWellcome Trust