Editorial
Copyright ©2007 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Nov 7, 2007; 13(41): 5421-5431
Published online Nov 7, 2007. doi: 10.3748/wjg.v13.i41.5421
Genetic epidemiology of primary sclerosing cholangitis
Tom H Karlsen, Erik Schrumpf, Kirsten Muri Boberg
Tom H Karlsen, Erik Schrumpf, Kirsten Muri Boberg, Medical Department, Rikshospitalet-Radiumhospitalet Medical Center, Oslo, Norway
Author contributions: All authors contributed equally to the work.
Correspondence to: Dr. Tom H Karlsen, Medical Department, Rikshospitalet-Radiumhospitalet Medical Center, N-0027 Oslo, Norway. t.h.karlsen@klinmed.uio.no
Telephone: + 47-23074226 Fax: +47-23073510
Received: June 6, 2007
Revised: July 31, 2007
Accepted: August 14, 2007
Published online: November 7, 2007
Abstract

The aetiology of primary sclerosing cholangitis (PSC) is not known. A more than 80-fold increased risk of PSC among first-degree relatives emphasizes the importance of genetic factors. Genetic associations within the human leukocyte antigen (HLA) complex on chromosome 6p21 were detected in PSC 25 years ago. Subsequent studies have substantiated beyond doubt that one or more genetic variants located within this genetic region are important. The true identities of these variants, however, remain to be identified. Several candidate genes at other chromosomal loci have also been investigated. However, according to strict criteria for what may be denominated a susceptibility gene in complex diseases, no such gene exists for PSC today. This review summarises present knowledge on the genetic susceptibility to PSC, as well as genetic associations with disease progression and clinical subsets of particular interest (inflammatory bowel disease and cholangiocarcinoma).

Keywords: Primary sclerosing cholangitis; Genetic associations; Human leukocyte antigens; Cholang- iocarcinoma; Inflammatory bowel disease