title: Genetics in primary sclerosing cholangitis.
abstract: Primary sclerosing cholangitis (PSC) is a chronic cholestatic disorder with a progressive course. PSC is strongly associated with inflammatory bowel disease and is often complicated by cholangiocarcinoma development. Etiology and pathogenesis remain obscure, but the diverse clinical manifestation of the disease might, to some extent, indicate different genetic susceptibility in subgroups of patients. In recent years, genome-wide association studies performed in PSC have identified a number of genetic susceptibility loci. In this mini-review, we suggest that the genetic associations established can be grouped according to four pathogenic aspects relating to inflammation, cholangiocyte function, fibrosis and carcinogenesis. Subclassification of PSC patients according to their genetic predisposition could be a valuable tool in future functional and clinical studies.
authors.affiliation: Norwegian PSC Research Center, Division of Cancer, Surgery and Transplantation, Oslo University Hospital Rikshospitalet, 0027 Oslo, Norway.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Næss
authors.forename: Alexey
authors.initials: A
authors.lastname: Shiryaev
authors.forename: Johannes R
authors.initials: JR
authors.lastname: Hov
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Tom H
authors.initials: TH
authors.lastname: Karlsen
mesh_terms: D001650:Bile Duct Neoplasms / Q000235:genetics; D001653:Bile Ducts, Intrahepatic; D018281:Cholangiocarcinoma / Q000235:genetics; D015209:Cholangitis, Sclerosing / Q000235:genetics*; D005355:Fibrosis / Q000235:genetics; D006801:Humans; D007249:Inflammation / Q000235:genetics