A frequent PNPLA3 variant predicts disease course in PSC patients with dominant bile duct strictures
K Friedrich, C Rupp, JR Hov, KH Weiss, P Sauer, P Schemmer, W Stremmel, TH Karlsen, D Gotthardt · Zeitschrift für Gastroenterologie · 2012 · Heft 08
Bibliografische Angaben
Zusammenfassung
Background and aims: Primary sclerosing cholangitis (PSC) is caused by chronic inflammation of the bile ducts and can progress to end-stage liver disease. 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. Methods: I148M polymorphism was screened in 121 PSC patients in a long-term prospective study cohort and in 83 PSC patients who had undergone endoscopic retrograde cholangiography (ERC) at our institute. In addition, we screened a Norwegian cohort of PSC patients for the I148M variant. Kaplan-Mei…
