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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

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Authors
Alberts, Rudi
de Vries, Elisabeth M G
Goode, Elizabeth C
Jiang, Xiaojun
Sampaziotis, Fotis
Rombouts, Krista
Böttcher, Katrin
Folseraas, Trine
Weismüller, Tobias J
Mason, Andrew L
Wang, Weiwei
Alexander, Graeme
Alvaro, Domenico
Bergquist, Annika
Björkström, Niklas K
Beuers, Ulrich
Björnsson, Einar
Boberg, Kirsten Muri
Bowlus, Christopher L
Bragazzi, Maria C
Carbone, Marco
Chazouillères, Olivier
Cheung, Angela
Dalekos, Georgios
Eaton, John
Eksteen, Bertus
Ellinghaus, David
Färkkilä, Martti
Festen, Eleonora A M
Floreani, Annarosa
Franceschet, Irene
Gotthardt, Daniel Nils
Hirschfield, Gideon M
Hoek, Bart van
Holm, Kristian
Hohenester, Simon
Hov, Johannes Roksund
Imhann, Floris
Invernizzi, Pietro
Juran, Brian D
Lenzen, Henrike
Lieb, Wolfgang
Liu, Jimmy Z
Marschall, Hanns-Ulrich
Marzioni, Marco
Melum, Espen
Milkiewicz, Piotr
Müller, Tobias
Pares, Albert
Rupp, Christian
Rust, Christian
Sandford, Richard N
Schramm, Christoph
Schreiber, Stefan
Schrumpf, Erik
Silverberg, Mark S
Srivastava, Brijesh
Sterneck, Martina
Teufel, Andreas
Vallier, Ludovic
Verheij, Joanne
Vila, Arnau Vich
Vries, Boudewijn de
Zachou, Kalliopi
Chapman, Roger W
Manns, Michael P
Pinzani, Massimo
Rushbrook, Simon M
Lazaridis, Konstantinos N
Franke, Andre
Anderson, Carl A
Karlsen, Tom H
Ponsioen, Cyriel Y
Weersma, Rinse K
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Issue Date
2018-01-01

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Citation
Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 2018, 67(8):1517-1524 Gut
Abstract
Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications. We collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients-obtained using the Illumina immunochip-with their disease subphenotypes. Using logistic regression and Cox proportional hazards models, we identified genetic variants associated with binary and time-to-event PSC subphenotypes. We identified genetic variant rs853974 to be associated with liver transplant-free survival (p=6.07×10 We present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files
Additional Links
https://gut.bmj.com/content/67/8/1517
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797498/
ae974a485f413a2113503eed53cd6c53
10.1136/gutjnl-2016-313598
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