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http://hdl.handle.net/2445/120628
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DC Field | Value | Language |
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dc.contributor.author | Ji, Sun-Gou | - |
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.accessioned | 2018-03-12T19:08:31Z | - |
dc.date.available | 2018-03-12T19:08:31Z | - |
dc.date.issued | 2017-02-01 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.uri | http://hdl.handle.net/2445/120628 | - |
dc.description.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. | - |
dc.format.extent | 19 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/ng.3745 | - |
dc.relation.ispartof | Nature Genetics, 2017, vol. 49, num. 2, p. 269-273 | - |
dc.relation.uri | https://doi.org/10.1038/ng.3745 | - |
dc.rights | cc-by-nc-sa (c) Ji et al., 2017 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/3.0/es | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Malalties inflamatòries intestinals | - |
dc.subject.classification | Gastroenterologia | - |
dc.subject.classification | Inflamació | - |
dc.subject.other | Inflammatory bowel diseases | - |
dc.subject.other | Gastroenterology | - |
dc.subject.other | 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 | - |
dc.identifier.idgrec | 668122 | - |
dc.date.updated | 2018-03-12T19:08:32Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 27992413 | - |
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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668122.pdf | 487.05 kB | Adobe PDF | View/Open |
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