The genetics of primary biliary cholangitis

Abstract

Purpose of review: Primary biliary cholangitis (PBC) is a female predominant chronic autoimmune disease of the intrahepatic bile ducts and with a long latent period. It is crucial to understand how genetics contribute to the disease.

Recent findings: Geo-epidemiological studies in PBC have provided evidence of familial risk; case-control studies and genome wide association studies have identified various human leukocyte antigen (HLA) and non-HLA alleles that are associated with PBC. However, these alleles are non-PBC specific and most of the identified non-HLA loci were also found to be susceptible genes in other autoimmune diseases and different between study populations.

Summary: Patients with PBC are often asymptomatic and often left undiagnosed. There are no known HLA and non-HLA alleles specific for PBC. Global effort and novel approaches such as epigenetics directed at identification of genetic risk factors will greatly facilitate accurate and timely diagnosis, which will improve prognosis and increase treatment options.