Genetics in primary sclerosing cholangitis - 08/09/12

Doi : 10.1016/j.clinre.2012.02.003

Sigrid Næss ^a,^b,^c, Alexey Shiryaev ^a,^b,^c, Johannes R. Hov ^a,^b,^c, Andre Franke ^c,^d, Tom H. Karlsen ^a,^⁎,^b,^e
^a Norwegian PSC Research Center, Division of Cancer, Surgery and Transplantation, Oslo University Hospital Rikshospitalet, 0027 Oslo, Norway
^b Research Institute for Internal Medicine, Division of Cancer, Surgery and Transplantation, Oslo University Hospital Rikshospitalet, Oslo, Norway
^c Institute of Clinical Medicine, University of Oslo, Oslo, Norway
^d Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
^e Institute of Medicine, Faculty of Medicine and Dentistry, University of Bergen, Bergen, Norway

Corresponding author. Tel.: +47 23072469; fax: +47 23074869.

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Summary

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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