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Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
Authors:Melum Espen  Franke Andre  Schramm Christoph  Weismüller Tobias J  Gotthardt Daniel Nils  Offner Felix A  Juran Brian D  Laerdahl Jon K  Labi Verena  Björnsson Einar  Weersma Rinse K  Henckaerts Liesbet  Teufel Andreas  Rust Christian  Ellinghaus Eva  Balschun Tobias  Boberg Kirsten Muri  Ellinghaus David  Bergquist Annika  Sauer Peter  Ryu Euijung  Hov Johannes Roksund  Wedemeyer Jochen  Lindkvist Björn  Wittig Michael  Porte Robert J  Holm Kristian  Gieger Christian  Wichmann H-Erich  Stokkers Pieter  Ponsioen Cyriel Y  Runz Heiko  Stiehl Adolf  Wijmenga Cisca  Sterneck Martina  Vermeire Severine  Beuers Ulrich
Affiliation:Norwegian PSC Research Center, Clinic for Specialized Medicine and Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
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?1? and P = 4.1 × 10??, respectively).
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