Genetic variability of interleukin4 gene in Taiwanese children with biliary atresia

Biliary atresia (BA) is a neonatal cholangiopathy of unknown etiology that leads to biliary cirrhosis and is the most common cause of liver transplantation in children. A still undetermined hepatobiliary viral infection may elicit an uncontrollable autoimmune response against the biliary epithelial cells in genetically predisposed children and culminates in atresia of the biliary trees. Interleukin 4 (IL4) is crucial for the differentiation of naive T helper cells into the T helper 2 effector cells that promote humoral immunity. This study aims to investigate whether polymorphisms of the IL4 gene are associated with susceptibility to BA. Genomic DNA was extracted from whole blood samples of 53 Taiwanese children with BA and 904 ethnically-matched healthy controls. The IL4 –590 C/T, –33 C/T, and 8375 A/G polymorphisms were genotyped using the Pre-Developed TaqMan Allelic Discrimination Assay in a real-time polymerase chain reaction system. No significant difference between children with BA and healthy controls were found when comparing genotype, allele, carrier, and haplotype frequencies of these IL4 gene variants. These results suggest that the tested polymorphisms of IL4 gene are unlikely to contribute significantly to BA susceptibility in Taiwanese children.

► Biliary atresia (BA) is a rare neonatal cholangiopathy that leads to biliary cirrhosis.
► Interleukin 4 (IL4) plays an important role in humoral (antibody)-mediated autoimmunity.
► We aim to investigate if polymorphisms of the IL4 gene are associated with BA susceptibility.
► The tested polymorphisms of IL4 gene are unlikely to contribute significantly to BA susceptibility in Taiwanese children.
► A more extensive array of IL4 SNPs in a larger dataset of other ethnicities are warranted.