Genetics in primary sclerosing cholangitis

Clinics and Research in Hepatology and Gastroenterology
Sigrid NæssTom H Karlsen

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.

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Citations

Sep 10, 2013·Journal of Autoimmunity·Pietro Invernizzi
Aug 7, 2013·Clinics and Research in Hepatology and Gastroenterology·Noémie PéanThierry Tordjmann
Apr 23, 2013·Journal of Hepatology·Tom H Karlsen, Kirsten Muri Boberg
Apr 2, 2013·Clinics in Liver Disease·Claudia O Zein
Apr 2, 2013·Clinics in Liver Disease·Gideon M Hirschfield
Oct 5, 2013·Best Practice & Research. Clinical Gastroenterology·Martin KummenKirsten Muri Boberg
Jan 11, 2014·Molecular Aspects of Medicine·Vincent Zimmer, Frank Lammert
Sep 19, 2016·Abdominal Radiology·Melinda J YehBenjamin M Yeh
Dec 7, 2018·International Journal of Molecular Sciences·Stefania CannitoMassimiliano Cadamuro
Jan 25, 2020·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Lilly Kristin KunzmannDorothee Schwinge
Oct 23, 2020·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Lilly Kristin KunzmannDorothee Schwinge

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