@article{704c1096784b451ba79aaed963f35815,
title = "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 2.4ĝ€{"}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).",
author = "Espen Melum and Andre Franke and Christoph Schramm and Weism{\"u}ller, {Tobias J.} and Gotthardt, {Daniel Nils} and Offner, {Felix A.} and Juran, {Brian D.} and Laerdahl, {Jon K.} and Verena Labi and Einar Bj{\"u}rnsson and Weersma, {Rinse K.} and Liesbet Henckaerts and Andreas Teufel and Christian Rust and Eva Ellinghaus and Tobias Balschun and Boberg, {Kirsten Muri} and David Ellinghaus and Annika Bergquist and Peter Sauer and Euijung Ryu and Hov, {Johannes Roksund} and Jochen Wedemeyer and Bj{\"o}rn Lindkvist and Michael Wittig and Porte, {Robert J.} and Kristian Holm and Christian Gieger and Wichmann, {H. Erich} and Pieter Stokkers and Ponsioen, {Cyriel Y.} and Heiko Runz and Adolf Stiehl and Cisca Wijmenga and Martina Sterneck and Severine Vermeire and Ulrich Beuers and Andreas Villunger and Erik Schrumpf and Lazaridis, {Konstantinos N.} and Manns, {Michael P.} and Stefan Schreiber and Karlsen, {Tom H.}",
note = "Funding Information: The authors wish to thank all PSC cases and healthy controls for their participation. We also thank K. Cloppenborg-Schmidt, I. Urbach, I. Pauselis, T. Wesse, T. Henke, R. Vogler, B. Stade, T. Vennegerts, P.R. Berg, H.D. Sollid and B. Woldseth for expert technical help. We are grateful to M.K. Viken and M. Nothnagel for helpful discussions. We acknowledge B.A. Lie and the Norwegian Bone Marrow Donor Registry at Oslo University Hospital, Rikshospitalet for contributing the healthy Norwegian control population. We acknowledge F. Braun, W. Kreisel, T. Berg and R. G{\"u}nther for contributing German PSC cases. We acknowledge A. Strasser for generating and kindly providing the Bcl2l11−/− mouse model. We greatly acknowledge A. Kaser for managing the Bcl2l11−/− liver histology assessment and for helpful discussions on the functional implications of all findings. The study was supported by The Norwegian PSC research center, the German Federal Ministry of Education and Research (BMBF) through the National Genome Research Network (NGFN), the PopGen biobank, the Integrated Research and Treatment Center–Transplantation (reference number: 01EO0802), the Palumbo Charitable Trust, the Musette and Allen Morgan Jr. Foundation for the Study of PSC, PSC Partners Seeking a Cure and the Mayo Clinic College of Medicine. The project received infrastructure support through the Norwegian Functional Genomics Programme (FUGE) through the {\textquoteleft}CIGENE{\textquoteright} platform, the Research Computing Services at the University of Oslo and the Deutsche Forschungsgemeinschaft (DFG) excellence cluster {\textquoteleft}Inflammation at Interfaces{\textquoteright}. The Kooperative Gesundheitsforschung in der Region Augsburg (KORA) research platform was initiated and financed by the Helmholtz Center Munich, German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research (BMBF) and by the State of Bavaria. Part of this work was financed by the German National Genome Research Network (NGFN-2 and NGFNPlus: 01GS0823). This research was also supported within the Munich Center of Health Sciences (MC Health) as part of Ludwig-Maximilians-Universit{\"a}t (LMU) innovativ.",
year = "2011",
month = jan,
doi = "10.1038/ng.728",
language = "English (US)",
volume = "43",
pages = "17--19",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",
}