Department of Pediatrics, Mackay Memorial Hospital, New Taipei City, Taiwan.
Cytokine. 2012 Mar;57(3):402-5. doi: 10.1016/j.cyto.2011.12.011. Epub 2012 Jan 5.
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.
先天性胆道闭锁（BA）是一种病因不明的新生儿胆管病，可导致胆汁性肝硬化，是儿童肝移植最常见的原因。尚未确定的肝胆病毒感染可能会在遗传易感性儿童中引发针对胆管上皮细胞的不可控自身免疫反应，并最终导致胆管闭锁。白细胞介素 4（IL4）对于将初始 T 辅助细胞分化为促进体液免疫的 T 辅助 2 效应细胞至关重要。本研究旨在探讨 IL4 基因多态性是否与 BA 的易感性相关。从 53 名台湾 BA 患儿和 904 名匹配的健康对照者的全血样本中提取基因组 DNA。采用实时聚合酶链反应系统中的 Pre-Developed TaqMan 等位基因鉴别分析，对 IL4-590C/T、-33C/T 和 8375A/G 多态性进行基因分型。BA 患儿与健康对照组在这些 IL4 基因变异的基因型、等位基因、携带者和单倍型频率方面无显著差异。这些结果表明，所检测的 IL4 基因多态性不太可能显著导致台湾儿童 BA 的易感性。
