biostudies-literatureUnknown8(3)Friedrich K<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 shPloS onee58734https://www.ebi.ac.uk/biostudies/studies/S-EPMC3591368biostudies-literatureA frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.PMC3591368Stiehl AGotthardt DNRunz HSchemmer PBrune MSauer PStremmel WFriedrich KKarlsen THWeiss KHSchirmacher PRupp CHov JRSteinebrunner NSchaefer PKfalseA frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.<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 sh2013-01-01T00:00:00Z20132026-04-08T03:49:22.967Z2026-04-07T21:37:48.181ZS-EPMC35913682350555510.1371/journal.pone.0058734