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Journal of Immunology Research
Volume 2017 (2017), Article ID 3073504, 6 pages
https://doi.org/10.1155/2017/3073504
Review Article

Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis

1Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan
2Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan

Correspondence should be addressed to Satoru Joshita; pj.ca.u-uhsnihs@atihsoj and Masao Ota; pj.ca.u-uhsnihs@oasamato

Received 18 October 2016; Accepted 12 January 2017; Published 1 February 2017

Academic Editor: Nancy Agmon-Levin

Copyright © 2017 Satoru Joshita et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.