PMID- 28255561 OWN - NLM STAT- MEDLINE DCOM- 20170322 LR - 20181113 IS - 2314-7156 (Electronic) IS - 2314-8861 (Print) IS - 2314-7156 (Linking) VI - 2017 DP - 2017 TI - Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis. PG - 3073504 LID - 10.1155/2017/3073504 [doi] LID - 3073504 AB - 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. FAU - Joshita, Satoru AU - Joshita S AUID- ORCID: 0000-0002-6364-9654 AD - Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan. FAU - Umemura, Takeji AU - Umemura T AD - Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan. FAU - Tanaka, Eiji AU - Tanaka E AD - Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan. FAU - Ota, Masao AU - Ota M AUID- ORCID: 0000-0002-6400-5658 AD - Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan. LA - eng PT - Journal Article PT - Review DEP - 20170201 PL - Egypt TA - J Immunol Res JT - Journal of immunology research JID - 101627166 RN - 0 (HLA Antigens) RN - 724L30Y2QR (Ursodeoxycholic Acid) SB - IM MH - Alleles MH - Cholangitis/*genetics/physiopathology MH - Disease Susceptibility MH - *Genetic Predisposition to Disease MH - Genome-Wide Association Study MH - HLA Antigens/*genetics MH - Humans MH - Liver Cirrhosis, Biliary/*genetics/physiopathology MH - Polymorphism, Genetic MH - Ursodeoxycholic Acid/therapeutic use PMC - PMC5309396 COIS- The authors declare that they have nothing to disclose regarding funding from industries or conflict of interests with respect to this manuscript. EDAT- 2017/03/04 06:00 MHDA- 2017/03/23 06:00 PMCR- 2017/02/01 CRDT- 2017/03/04 06:00 PHST- 2016/10/18 00:00 [received] PHST- 2017/01/12 00:00 [accepted] PHST- 2017/03/04 06:00 [entrez] PHST- 2017/03/04 06:00 [pubmed] PHST- 2017/03/23 06:00 [medline] PHST- 2017/02/01 00:00 [pmc-release] AID - 10.1155/2017/3073504 [doi] PST - ppublish SO - J Immunol Res. 2017;2017:3073504. doi: 10.1155/2017/3073504. Epub 2017 Feb 1.