Ji, Sun-Gou and Juran, Brian D. and Mucha, Soeren and Folseraas, Trine and Jostins, Luke and Melum, Espen and Kumasaka, Natsuhiko and Atkinson, Elizabeth J. and Schlicht, Erik M. and Liu, Jimmy Z. and Shah, Tejas and Gutierrez-Achury, Javier and Boberg, Kirsten M. and Bergquist, Annika and Vermeire, Severine and Eksteen, Bertus and Durie, Peter R. and Farkkila, Martti and Mueller, Tobias and Schramm, Christoph and Sterneck, Martina and Weismueller, Tobias J. and Gotthardt, Daniel N. and Ellinghaus, David and Braun, Felix and Teufel, Andreas and Laudes, Mattias and Lieb, Wolfgang and Jacobs, Gunnar and Beuers, Ulrich and Weersma, Rinse K. and Wijmenga, Cisca and Marschall, Hanns-Ulrich and Milkiewicz, Piotr and Pares, Albert and Kontula, Kimmo and Chazouilleres, Olivier and Invernizzi, Pietro and Goode, Elizabeth and Spiess, Kelly and Moore, Carmel and Sambrook, Jennifer and Ouwehand, Willem H. and Roberts, David J. and Danesh, John and Floreani, Annarosa and Gulamhusein, Aliya F. and Eaton, John E. and Schreiber, Stefan and Coltescu, Catalina and Bowlus, Christopher L. and Luketic, Velimir A. and Odin, Joseph A. and Chopra, Kapil B. and Kowdley, Kris V. and Chalasani, Naga and Manns, Michael P. and Srivastava, Brijesh and Mells, George and Sandford, Richard N. and Alexander, Graeme and Gaffney, Daniel J. and Chapman, Roger W. and Hirschfield, Gideon M. and de Andrade, Mariza and Rushbrook, Simon M. and Franke, Andre and Karlsen, Tom H. and Lazaridis, Konstantinos N. and Anderson, Carl A. (2017) Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. NATURE GENETICS, 49 (2). pp. 269-273. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)Abstract
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; similar to 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 (r(G)) between PSC and ulcerative colitis (UC) (r(G) = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (r(G) = 0.04) (P = 2.55 x 10(-15)). UC and CD were genetically more similar to each other (r(G) = 0.56) than either was to PSC (P < 1.0 x 10(-15)). Our study represents a substantial advance in understanding of the genetics of PSC.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SUSCEPTIBILITY LOCI; PSORIATIC-ARTHRITIS; ULCERATIVE-COLITIS; TRANSCRIPTOME; METAANALYSIS; VARIANTS; REVEALS; REGIONS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin I |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Dec 2018 13:01 |
| Last Modified: | 25 Feb 2019 11:48 |
| URI: | https://pred.uni-regensburg.de/id/eprint/513 |
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