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

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).

SUBMITTER: Melum E 

PROVIDER: S-EPMC4354850 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature

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

Melum Espen E   Franke Andre A   Schramm Christoph C   Weismüller Tobias J TJ   Gotthardt Daniel Nils DN   Offner Felix A FA   Juran Brian D BD   Laerdahl Jon K JK   Labi Verena V   Björnsson Einar E   Weersma Rinse K RK   Henckaerts Liesbet L   Teufel Andreas A   Rust Christian C   Ellinghaus Eva E   Balschun Tobias T   Boberg Kirsten Muri KM   Ellinghaus David D   Bergquist Annika A   Sauer Peter P   Ryu Euijung E   Hov Johannes Roksund JR   Wedemeyer Jochen J   Lindkvist Björn B   Wittig Michael M   Porte Robert J RJ   Holm Kristian K   Gieger Christian C   Wichmann H-Erich HE   Stokkers Pieter P   Ponsioen Cyriel Y CY   Runz Heiko H   Stiehl Adolf A   Wijmenga Cisca C   Sterneck Martina M   Vermeire Severine S   Beuers Ulrich U   Villunger Andreas A   Schrumpf Erik E   Lazaridis Konstantinos N KN   Manns Michael P MP   Schreiber Stefan S   Karlsen Tom H TH  

Nature genetics 20101212 1

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). ...[more]

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