Advances in genetic research on primary biliary cholangitis / 临床肝胆病杂志

ABSTRACT

Primary biliary cholangitis (PBC) is an autoimmune liver disease with strong genetic susceptibility.The genome-wide association studies and immunochip studies conducted in recent years help to reveal the pathogenesis of PBC.The susceptibility genes of PBC are classified into human leukocyte antigen gene and non-human leukocyte antigen gene,and most of the susceptibility loci are associated with immune regulation,suggesting that disorders of the immune regulatory pathways may play an important role in the pathogenesis of PBC.In addition,the weighted genetic risk score of these candidate genes may predict the risk of PBC.At present,about one third of PBC patients have suboptimal response to ursodeoxycholic acid;therefore,targeted drugs for susceptibility genes may become an effective substitutive therapy.