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Title: | Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease |
Author: | Ji, Sun-Gou Juran, Brian D. Mucha, Sören Folseraas, Trine Jostins, Luke Melum, Espen Kumasaka, Natsuhiko Atkinson, Elizabeth J. Schlicht, Erik M. Liu, Jimmy Z. Shah, Tejas Gutierrez Achury, Javier Boberg, Kirsten M. Bergquist, Annika Vermeire, Severine Eksteen, Bertus Durie, Peter R. Farkkila, Martti Müller, Tobias Schramm, Christoph Sterneck, Martina Weismüller, Tobias J. Gotthardt, Daniel N. Ellinghaus, David Braun, Felix Teufel, Andreas Laudes, Mattias Lieb, Wolfgang Jacobs, Gunnar Beuers, Ulrich Weersma, Rinse K Wijmenga, Cisca Marschall, Hanns-Ulrich Milkiewicz, Piotr Parés Darnaculleta, Albert Kontula, Kimmo Chazouillères, Olivier Invernizzi, Pietro Goode, Elizabeth C. Spiess, Kelly Moore, Carmel Sambrook, Jennifer Ouwehand, Willem H. Roberts, David J. Danesh, John Floreani, Annarosa Gulamhusein, Aliya F. Schreiber, Stefan Coltescu, Catalina Bowlus, Christopher L. Luketic, Velimir A. Odin, Joseph A. Chopra, Kapil B. Kowdley, Kris V. Chalasani, Naga Manns, Michael P. Srivastava, Brijesh Mells, George Sandford, Richard N. Alexander, Graeme Gaffney, Daniel J. Chapman, Roger W. Hirschfield, Gideon M. Andrade, Mariza de Rushbrook, Simon M. Franke, Andre Karlsen, Tom H. Lazaridis, Konstantinos N. Anderson, Carl A. UK-PSC Consortium International IBD Genetics Consortium International PSC Study Group |
Keywords: | Malalties inflamatòries intestinals Gastroenterologia Inflamació Inflammatory bowel diseases Gastroenterology Inflammation |
Issue Date: | 1-Feb-2017 |
Publisher: | Nature Publishing Group |
Abstract: | Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (rG) between PSC and ulcerative colitis (UC) (rG = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (rG = 0.04) (P = 2.55 × 10-15). UC and CD were genetically more similar to each other (rG = 0.56) than either was to PSC (P < 1.0 × 10-15). Our study represents a substantial advance in understanding of the genetics of PSC. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/ng.3745 |
It is part of: | Nature Genetics, 2017, vol. 49, num. 2, p. 269-273 |
URI: | http://hdl.handle.net/2445/120628 |
Related resource: | https://doi.org/10.1038/ng.3745 |
ISSN: | 1061-4036 |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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