Advances in the study of abnormal expression of genes related to primary biliary cholangitis / 中华肝脏病杂志

ABSTRACT

Primary biliary cholangitis (PBC) is a chronic, non-suppurative, autoimmune cholestatic group of liver disorder, which more frequently affects middle-aged women and eventually leads to liver failure. Its pathogenesis is not completely clear, yet the study has confirmed that the occurrence and development of PBC is closely associated to the individual's genetic background, with obvious genetic heterogeneity. Currently, PBC has been divided into five types based on their related genes dissimilarities, aside from PBC-1, which is an autosomal dominant inheritance, while the other four types of inheritance are unidentified. The ratio of middle-aged women to male cases with PBC goes overs 91, and it mostly occurs in perimenopausal period. It is speculated that the occurrence of PBC may be related to estrogen and estrogen receptors. This article reviews the advances in the study of genetic theory of PBC and the role of estrogen and its receptor in this disease.