Genetic aspects of biliary atresia etiology

Isaeva MKh1, Belova VA2, Korostin DO2, Degtyareva AV1,3
About authors

1 Academician V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia

2 Pirogov Russian National Research Medical University, Moscow, Russia

3 Sechenov First Moscow State Medical University, Moscow, Russia

Correspondence should be addressed: Medan Kh. Isaeva
Oparina street 4B, Moscow, 117513; ur.kb@aveyasi.nadem

About paper

Funding: the study was supported by grant № 075-15-2019-1789 of the Ministry of Science and Higher Education of the Russian Federation issued to ensure state support for the Center for Precision Genome Editing and Genetic Technologies for Biomedicine.

Author contribution: Isaeva MKh, Belova VA — literature analysis, manuscript writing; Korostin DO, Degtyareva AV — concept and structure of the review, manuscript editing.

Received: 2020-10-08 Accepted: 2020-11-24 Published online: 2020-11-07

Biliary atresia (BA) is a cholestatic disorder of infancy that is fatal if untreated. Despite years of study the etiology of BA remains unknown. Three etiopathogenic mechanisms may be involved, such as immune dysregulation, environmental factors and genetic susceptibility. Genetic predisposition is being actively studied. Candidate genes associated with BA in certain populations, genes affecting the cholangiocyte cilia function, as well as genes involved in stress responses have been identified. However, the long-term follow-up of twins with BA suggests that genotype is not of paramount importance for the disease development. Both epigenetic patterns and postzygotic somatic mutations may contribute to etiology of the disease. Recently, some evidence is being accumulated on the possible genetic predisposition to certain outcome of Kasai portoenterostomy performed in patients with BA. However, the presence of a number of factors contributing to the development of the disease makes it difficult to identify the genetic markers.

Keywords: liver disease, biliary atresia, biliary atresia etiology, cholestasis, genetic factors