PMID- 17907284 OWN - NLM STAT- MEDLINE DCOM- 20071220 LR - 20211020 IS - 1007-9327 (Print) IS - 2219-2840 (Electronic) IS - 1007-9327 (Linking) VI - 13 IP - 41 DP - 2007 Nov 7 TI - Genetic epidemiology of primary sclerosing cholangitis. PG - 5421-31 AB - 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). FAU - Karlsen, Tom-H AU - Karlsen TH AD - Medical Department, Rikshospitalet-Radiumhospitalet Medical Center, N-0027 Oslo, Norway. t.h.karlsen@klinmed.uio.no FAU - Schrumpf, Erik AU - Schrumpf E FAU - Boberg, Kirsten-Muri AU - Boberg KM LA - eng PT - Editorial PT - Review PL - United States TA - World J Gastroenterol JT - World journal of gastroenterology JID - 100883448 RN - 0 (HLA Antigens) SB - IM MH - Bile Duct Neoplasms/genetics/immunology MH - Bile Ducts, Intrahepatic/immunology MH - Cholangiocarcinoma/genetics/immunology MH - Cholangitis, Sclerosing/complications/epidemiology/*genetics/immunology MH - *Chromosomes, Human, Pair 6 MH - Data Interpretation, Statistical MH - Disease Progression MH - Effect Modifier, Epidemiologic MH - Genetic Predisposition to Disease MH - HLA Antigens/*genetics MH - Humans MH - Inflammatory Bowel Diseases/genetics/immunology MH - Odds Ratio MH - Pedigree MH - *Polymorphism, Genetic MH - Risk Assessment MH - Risk Factors PMC - PMC4171275 EDAT- 2007/10/02 09:00 MHDA- 2007/12/21 09:00 PMCR- 2007/11/07 CRDT- 2007/10/02 09:00 PHST- 2007/10/02 09:00 [pubmed] PHST- 2007/12/21 09:00 [medline] PHST- 2007/10/02 09:00 [entrez] PHST- 2007/11/07 00:00 [pmc-release] AID - 10.3748/wjg.v13.i41.5421 [doi] PST - ppublish SO - World J Gastroenterol. 2007 Nov 7;13(41):5421-31. doi: 10.3748/wjg.v13.i41.5421.