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 × 10⁻¹⁶ and P = 4.1 × 10⁻⁸, respectively).

• Authors: 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, Andreas Teufel, Christian Rust, Eva Ellinghaus, Tobias Balschun, Kirsten Muri Boberg, David Ellinghaus, Annika Bergquist, Peter Sauer, Euijung Ryu, Johannes Roksund Hov, Jochen Wedemeyer, Björn Lindkvist, Michael Wittig, Robert J Porte, Kristian Holm, Christian Gieger, H-Erich Wichmann, Pieter Stokkers, Cyriel Y Ponsioen, Heiko Runz, Adolf Stiehl, Cisca Wijmenga, Martina Sterneck, Severine Vermeire, Ulrich Beuers, Andreas Villunger, Erik Schrumpf, Konstantinos N Lazaridis, Michael P Manns, Stefan Schreiber, Tom H Karlsen
• Journal: Nature genetics (Nat Genet) Vol. 43 Issue 1 Pg. 17-9 (Jan 2011) ISSN: 1546-1718 [Electronic] United States
• PMID: 21151127 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Apoptosis Regulatory Proteins
• BCL2L11 protein, human
• Bcl-2-Like Protein 11
• HLA Antigens
• Membrane Proteins
• Proto-Oncogene Proteins
• macrophage stimulating protein
• Hepatocyte Growth Factor

Topics

• Apoptosis Regulatory Proteins (genetics)
• Bcl-2-Like Protein 11
• Cholangitis, Sclerosing (genetics)
• Cohort Studies
• Gene Expression Profiling
• Genetic Loci
• Genetic Predisposition to Disease (genetics)
• Genome-Wide Association Study
• HLA Antigens (genetics)
• Hepatocyte Growth Factor (genetics)
• Humans
• Membrane Proteins (genetics)
• Polymorphism, Single Nucleotide
• Proto-Oncogene Proteins (genetics)