title: Genetic determinants of cholestasis.
abstract: Cholestasis is an overarching term applied for conditions whereby biliary constituents are found in the circulation because of impairment to bile flow. A variety of processes can lead to cholestasis, be they acute or chronic injuries to hepatocytes, cholangiocytes, or the broader biliary tree itself. Such injuries may be driven by rare but highly informative primary genetic abnormalities, or may be seen in individuals with a prior genetic predisposition when confronted by specific environmental challenges such as drug exposure. This review provides a broad outline of some fundamental primary genetic cholestatic syndromes and an update on varying genetic predisposition underlying several acquired cholestatic processes.
authors.affiliation: NIHR Biomedical Research Unit and Centre for Liver Research, Institute of Biomedical Research, The Medical School, University of Birmingham, Wolfson Drive, Birmingham B15 2TT, UK. g.hirschfield@bham.ac.uk
authors.forename: Gideon M
authors.initials: GM
authors.lastname: Hirschfield
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency / Q000235:genetics; D000347:Afibrinogenemia / Q000151:congenital / Q000235:genetics; D016738:Alagille Syndrome / Q000235:genetics; D056486:Chemical and Drug Induced Liver Injury / Q000150:complications / Q000235:genetics / Q000378:metabolism; D015209:Cholangitis, Sclerosing / Q000150:complications / Q000235:genetics; D002779:Cholestasis / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics; D011248:Pregnancy Complications / Q000235:genetics
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B