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

Espen Melum, Andre Franke, Christoph Schramm, Tobias J. Weismueller, Daniel Nils Gotthardt, Felix A. Offner, Brian D. Juran, Jon K. Laerdahl, Verena Labi, Einar Bjoernsson, Rinse K. Weersma, Liesbet Henckaerts, Andreas Teufel, Christian Rust, Eva Ellinghaus, Tobias Balschun, Kirsten Muri Boberg, David Ellinghaus, Annika Bergquist, Peter SauerEuijung Ryu, Johannes Roksund Hov, Jochen Wedemeyer, Bjoern 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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

175 Citations (Scopus)

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 x 10(-16) and P = 4.1 x 10(-8), respectively).

Original languageEnglish
Pages (from-to)17-19
Number of pages3
JournalNature Genetics
Volume43
Issue number1
DOIs
Publication statusPublished - Jan-2011

Keywords

  • BOWEL-DISEASE
  • PATHOGENESIS

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