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Nature Research, Nature Genetics, 1(43), p. 17-19, 2010

DOI: 10.1038/ng.728

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Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci

Journal article published in 2010 by Espen Melum, Andre Franke, Christoph Schramm, Tobias J. Weismüller, Daniel Nils Gotthardt, Felix A. Offner, Brian D. Juran, Jon K. Laerdahl, Verena Labi, Einar Björnsson, Rinse K. Weersma, Liesbet Henckaerts ORCID, Andreas Teufel, Christian Rust, Eva Ellinghaus ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4–7.5% of individuals with inflammatory bowel disease. We performed a genome-wide association analysis of 2,466,182 SNPs in 715 individuals with PSC and 2,962 controls, followed by replication in 1,025 PSC cases and 2,174 controls. We detected non-HLA associations at rs3197999 in MST1 and rs6720394 near BCL2L11 (combined P = 1.1 × 10−16 and P = 4.1 × 10−8, respectively).