Genetic background and biliary atresia

Biliary atresia (BA) is a lethal hepatobiliary disorder in infants characterized by progressive destruction of intrahepatic and extrahepatic bile ducts and obstructive biliary fibrosis. Although hepatic portoenterostomy (Kasai procedure) can temporarily reconstruct bile drainage, persistent postoperative inflammation and hepatic fibrosis still lead to over half of the patients requiring liver transplantation for survival. Epidemiological studies reveal significant geographical and ethnic disparities in BA incidence, suggesting that genetic susceptibility plays an indispensable role in its pathogenesis. This article is based on the multidimensional interactive pathogenic hypothesis of BA of 'embryonic developmental abnormalities, perinatal injury, and dysregulated immune microenvironment' in addition to progressive hepatobiliary fibrosis. We review advances in the genetic and epigenetic regulatory networks of BA with the aim of providing ideas for future genetic research on this disease.