Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis

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 f...

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Main Authors: Satoru Joshita, Takeji Umemura, Eiji Tanaka, Masao Ota
Format: Article
Language:English
Published: Wiley 2017-01-01
Series:Journal of Immunology Research
Online Access:http://dx.doi.org/10.1155/2017/3073504
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author Satoru Joshita
Takeji Umemura
Eiji Tanaka
Masao Ota
author_facet Satoru Joshita
Takeji Umemura
Eiji Tanaka
Masao Ota
author_sort Satoru Joshita
collection DOAJ
description 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.
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spelling doaj-art-54b52e1ecdd246149e61c735abdc623b2025-02-03T05:53:32ZengWileyJournal of Immunology Research2314-88612314-71562017-01-01201710.1155/2017/30735043073504Genetic Contribution to the Pathogenesis of Primary Biliary CholangitisSatoru Joshita0Takeji Umemura1Eiji Tanaka2Masao Ota3Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanFormerly 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.http://dx.doi.org/10.1155/2017/3073504
spellingShingle Satoru Joshita
Takeji Umemura
Eiji Tanaka
Masao Ota
Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
Journal of Immunology Research
title Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
title_full Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
title_fullStr Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
title_full_unstemmed Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
title_short Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
title_sort genetic contribution to the pathogenesis of primary biliary cholangitis
url http://dx.doi.org/10.1155/2017/3073504
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