The Genetics of Primary Biliary Cholangitis: A GWAS and Post-GWAS Update.

ABSTRACT: Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which the small intrahepatic bile ducts are destroyed by autoimmune reactions. Among autoimmune diseases, which are polygenic complex traits caused by the combined contribution of genetic and environmental factors, PBC exhibits the strongest involvement of genetic heritability in disease development. As at December 2022, genome-wide association studies (GWASs) and associated meta-analyses identified approximately 70 PBC susceptibility gene loci in various populations, including those of European and East Asian descent. However, the molecular mechanisms through which these susceptibility loci affect the pathogenesis of PBC are not fully understood. This study provides an overview of current data regardi

SUBMITTER: Hitomi Y 

PROVIDER: S-EPMC9957238 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature