Abstract
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.
Highlights
GENETIC ASPECTS OF BILIARY ATRESIA ETIOLOGYIsaeva MKh1 , Belova VA2, Korostin DO2, Degtyareva AV1,3 1 National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V
Prior to becoming familiar with genetic patterns associated with Biliary atresia (BA) and contributing to the treatment outcome, the other factors involved in the BA pathogenesis should be mentioned briefly: immune dysregulation and environmental factors
Genetic approaches to BA include the analysis of candidate genes, CNV, genome-wide association studies (GWAS), and whole exome sequencing (WES)
Summary
Isaeva MKh1 , Belova VA2, Korostin DO2, Degtyareva AV1,3 1 National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V. Moscow, Russia 2 Pirogov Russian National Research Medical University, Moscow, Russia 3 Sechenov University, Moscow, Russia
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