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Primary sclerosing cholangitis (PSC) does not exhibit simple Mendelian inheritance attributable to a single gene locus and our knowledge of the genetics of this complex disease is based entirely on case-control studies of candidate genes. The prime candidates in PSC are inherited variation (polymorphism) in the genes that regulate the immune response, especially the genes of the major histocompatibility complex (MHC). Thus far, five different human leukocyte antigen (HLA) haplotypes have been associated with PSC: three with increased risk of disease and two with reduced risk. More recently studies of non-MHC genes have failed to associate PSC with several cytokine genes (IL-1 and IL-10), with FAS (TNFRSF6), with TGFβ-1, or with CCR-5 but have found genetic links with MMP-3 and disease progression, whilst the potential role of CTLA-4 gene polymorphism remains in question. With the completion of the human genome project, understanding the genetics of complex (non-Mendelian) disease is a major priority for the research community and the studies summarized herein may guide these future investigations.
Author(s): Donaldson PT, Norris S
Publication type: Article
Publication status: Published
Journal: Best Practice and Research: Clinical Gastroenterology
Year: 2001
Volume: 15
Issue: 4
Pages: 611-627
ISSN (print): 1521-6918
ISSN (electronic): 1532-1916
Publisher: Bailliere Tindall
URL: http://dx.doi.org/10.1053/bega.2001.0208
DOI: 10.1053/bega.2001.0208
PubMed id: 11492971
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