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dc.contributor.author | Ji, Sun-Gou |
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dc.contributor.author | Juran, Brian D. |
dc.contributor.author | Mucha, Sören |
dc.contributor.author | Folseraas, Trine |
dc.contributor.author | Jostins, Luke |
dc.contributor.author | Melum, Espen |
dc.contributor.author | Kumasaka, Natsuhiko |
dc.contributor.author | Atkinson, Elizabeth J. |
dc.contributor.author | Schlicht, Erik M. |
dc.contributor.author | Liu, Jimmy Z. |
dc.contributor.author | Shah, Tejas |
dc.contributor.author | Gutierrez Achury, Javier |
dc.contributor.author | Boberg, Kirsten M. |
dc.contributor.author | Bergquist, Annika |
dc.contributor.author | Vermeire, Severine |
dc.contributor.author | Eksteen, Bertus |
dc.contributor.author | Durie, Peter R. |
dc.contributor.author | Farkkila, Martti |
dc.contributor.author | Müller, Tobias |
dc.contributor.author | Schramm, Christoph |
dc.contributor.author | Sterneck, Martina |
dc.contributor.author | Weismüller, Tobias J. |
dc.contributor.author | Gotthardt, Daniel N. |
dc.contributor.author | Ellinghaus, David |
dc.contributor.author | Braun, Felix |
dc.contributor.author | Teufel, Andreas |
dc.contributor.author | Laudes, Mattias |
dc.contributor.author | Lieb, Wolfgang |
dc.contributor.author | Jacobs, Gunnar |
dc.contributor.author | Beuers, Ulrich |
dc.contributor.author | Weersma, Rinse K |
dc.contributor.author | Wijmenga, Cisca |
dc.contributor.author | Marschall, Hanns-Ulrich |
dc.contributor.author | Milkiewicz, Piotr |
dc.contributor.author | Parés Darnaculleta, Albert |
dc.contributor.author | Kontula, Kimmo |
dc.contributor.author | Chazouillères, Olivier |
dc.contributor.author | Invernizzi, Pietro |
dc.contributor.author | Goode, Elizabeth C. |
dc.contributor.author | Spiess, Kelly |
dc.contributor.author | Moore, Carmel |
dc.contributor.author | Sambrook, Jennifer |
dc.contributor.author | Ouwehand, Willem H. |
dc.contributor.author | Roberts, David J. |
dc.contributor.author | Danesh, John |
dc.contributor.author | Floreani, Annarosa |
dc.contributor.author | Gulamhusein, Aliya F. |
dc.contributor.author | Schreiber, Stefan |
dc.contributor.author | Coltescu, Catalina |
dc.contributor.author | Bowlus, Christopher L. |
dc.contributor.author | Luketic, Velimir A. |
dc.contributor.author | Odin, Joseph A. |
dc.contributor.author | Chopra, Kapil B. |
dc.contributor.author | Kowdley, Kris V. |
dc.contributor.author | Chalasani, Naga |
dc.contributor.author | Manns, Michael P. |
dc.contributor.author | Srivastava, Brijesh |
dc.contributor.author | Mells, George |
dc.contributor.author | Sandford, Richard N. |
dc.contributor.author | Alexander, Graeme |
dc.contributor.author | Gaffney, Daniel J. |
dc.contributor.author | Chapman, Roger W. |
dc.contributor.author | Hirschfield, Gideon M. |
dc.contributor.author | Andrade, Mariza de |
dc.contributor.author | Rushbrook, Simon M. |
dc.contributor.author | Franke, Andre |
dc.contributor.author | Karlsen, Tom H. |
dc.contributor.author | Lazaridis, Konstantinos N. |
dc.contributor.author | Anderson, Carl A. |
dc.contributor.author | UK-PSC Consortium |
dc.contributor.author | International IBD Genetics Consortium |
dc.contributor.author | International PSC Study Group |
dc.date | 2018-03-12T19:08:31Z |
dc.date | 2018-03-12T19:08:31Z |
dc.date | 2017-02-01 |
dc.date | 2018-03-12T19:08:32Z |
dc.identifier | 1061-4036 |
dc.identifier | 668122 |
dc.identifier | 27992413 |
dc.identifier.uri | http://hdl.handle.net/2445/120628 |
dc.description | 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. |
dc.format | 19 p. |
dc.format | application/pdf |
dc.language | eng |
dc.publisher | Nature Publishing Group |
dc.relation | Reproducció del document publicat a: https://doi.org/10.1038/ng.3745 |
dc.relation | Nature Genetics, 2017, vol. 49, num. 2, p. 269-273 |
dc.relation | https://doi.org/10.1038/ng.3745 |
dc.rights | cc-by-nc-sa (c) Ji et al., 2017 |
dc.rights | http://creativecommons.org/licenses/by-nc-sa/3.0/es |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Malalties inflamatòries intestinals |
dc.subject | Gastroenterologia |
dc.subject | Inflamació |
dc.subject | Inflammatory bowel diseases |
dc.subject | Gastroenterology |
dc.subject | Inflammation |
dc.title | Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |