Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
2010; Nature Portfolio; Volume: 43; Issue: 1 Linguagem: Inglês
10.1038/ng.728
ISSN1546-1718
AutoresEspen Melum, André Franke, Christoph Schramm, Tobias J. Weismüller, Daniel Gotthardt, Felix Offner, Brian D. Juran, Jon K. Laerdahl, Verena Labi, Einar S. 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 R. 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, Séverine Vermeire, Ulrich Beuers, Andreas Villunger, Erik Schrumpf, Konstantinos N. Lazaridis, Michael P. Manns, Stefan Schreiber, Tom H. Karlsen,
Tópico(s)Inflammatory Bowel Disease
ResumoTom Karlsen and colleagues report a genome-wide association study for primary sclerosing cholangitis, a chronic bile duct disease. They identify susceptibility loci at MST1 and near BCL2L11. 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).
Referência(s)