{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8(3)"],"submitter":["Friedrich K"],"pubmed_abstract":["<h4>Background aims</h4>Primary sclerosing cholangitis predominantly affects males and is an important indication for liver transplantation. The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver disease and we evaluated its impact on the disease course of PSC.<h4>Methods</h4>The I148M polymorphism was genotyped in 121 German PSC patients of a long-term prospective cohort and 347 Norwegian PSC patients.<h4>Results</h4>In the prospective German cohort, actuarial survival free of liver transplantation was significantly reduced for I148M carriers (p = 0.011) compared to wildtype patients. This effect was restricted to patients with severe disease, as defined by development of dominant stenosis (DS) requiring endoscopic intervention. DS patients sh"],"journal":["PloS one"],"pagination":["e58734"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3591368"],"repository":["biostudies-literature"],"pubmed_title":["A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis."],"pmcid":["PMC3591368"],"pubmed_authors":["Stiehl A","Gotthardt DN","Runz H","Schemmer P","Brune M","Sauer P","Stremmel W","Friedrich K","Karlsen TH","Weiss KH","Schirmacher P","Rupp C","Hov JR","Steinebrunner N","Schaefer PK"],"additional_accession":[]},"is_claimable":false,"name":"A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.","description":"<h4>Background aims</h4>Primary sclerosing cholangitis predominantly affects males and is an important indication for liver transplantation. The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver disease and we evaluated its impact on the disease course of PSC.<h4>Methods</h4>The I148M polymorphism was genotyped in 121 German PSC patients of a long-term prospective cohort and 347 Norwegian PSC patients.<h4>Results</h4>In the prospective German cohort, actuarial survival free of liver transplantation was significantly reduced for I148M carriers (p = 0.011) compared to wildtype patients. This effect was restricted to patients with severe disease, as defined by development of dominant stenosis (DS) requiring endoscopic intervention. DS patients sh","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013","modification":"2026-04-08T03:49:22.967Z","creation":"2026-04-07T21:37:48.181Z"},"accession":"S-EPMC3591368","cross_references":{"pubmed":["23505555"],"doi":["10.1371/journal.pone.0058734"]}}