title: Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.
abstract: Formerly termed primary biliary cirrhosis, primary biliary cholangitis (PBC) is a chronic and progressive cholestatic liver disease characterized by the presence of antimitochondrial antibodies. Ursodeoxycholic acid (UDCA) therapy is the most effective and approved treatment for PBC and leads to a favorable outcome in the vast majority of cases. Although the etiology of PBC has not yet been elucidated, human leukocyte antigen (HLA) class II alleles have been consistently associated with disease onset for decades. Individuals in different geographic regions of the world may have varying susceptibility alleles that reflect indigenous triggering antigens. In this review, we describe the influence of HLA alleles and other gene polymorphisms on PBC along with the results of genome-wide association studies (GWAS) on this disease.
authors.affiliation: Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
authors.forename: Satoru
authors.identifier: 0000-0002-6364-9654
authors.initials: S
authors.lastname: Joshita
authors.affiliation: Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
authors.forename: Takeji
authors.initials: T
authors.lastname: Umemura
authors.affiliation: Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Tanaka
authors.affiliation: Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
authors.forename: Masao
authors.identifier: 0000-0002-6400-5658
authors.initials: M
authors.lastname: Ota
mesh_terms: D000483:Alleles; D002761:Cholangitis / Q000235:genetics* / Q000503:physiopathology; D004198:Disease Susceptibility; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000503:physiopathology; D011110:Polymorphism, Genetic; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
chemical_list: D006680:HLA Antigens; D014580:Ursodeoxycholic Acid