ABCB11基因V444A位点多态性在新生儿胆汁淤积症中的意义

Significance of V444A polymorphism of ABCBll gene in neonatal cholestasis

目的探讨ABCB11基因中常见的多态性位点1331T〉C（V444A）变异在新生儿胆汁淤积症中的意义。方法选择192例新生儿胆汁淤积症患儿作为病例组，196例健康儿童作为健康对照组，采用TaqmanMGB荧光探针的方法对1331T〉C（V444A）位点进行检测。应用Fisher’s精确概率检验比较不同等位基因或基因型在2组中的差异，应用秩和检验比较不同基因型患儿γ-谷氨酰转肽酶、总胆红素和总胆汁酸水平的差异。结果1331T〉C（V444A）组成的TT、Tc和CC3种基因型在2组人群中的分布差异无统计学意义（P=0．530）。T等位基因在病例组中占29．9％，在健康对照组中占26．3％，2组比较差异无统计学意义（OR=1．12，P=0．264）。不同基因型患儿的γ-谷氨酰转肽酶、总胆红素和总胆汁酸水平比较差异亦均无统计学意义（P均〉0．05）。结论仅单个1331T〉C（V444A）位点变异并不增加新生儿胆汁淤积症的易感性。

Objective To explore the association between one common variant in ABCB11-1331T 〉 C （V444A） and neonatal cholestasis. Methods One hundred and ninety-two children with neonatal cholestasis were en- rolled as case group,and 196 healthy children were selected as healthy control group. The SNP site of V444A was tested by fluorescent quantitative PCR. Fisher＇s exact test was performed to detect the differences in allele and genotype distribution between the 2 groups. Wilcoxon rank-sum test was used to test the differences of total bilirubin, total bile acid, γ- glutamyl transpeptidase levels among the patients with different genotypes. Results TT,TC and CC genotypic distribu- tion of V444A were not significantly different between patients and controls （P = 0. 530）. The T allele in the case group accounted for 29.9%, in the healthy control group accounted for 26.3% ,there was no significant difference between the 2 groups（ OR = 1. 12, P = 0. 264 ）. Total bilirubin, total bile acid, γ-glutamyl transpeptidase levels in patients with different genotypes of V444A were also not statistically different （ all P 〉 0.05 ）. Conclusion Only V444A variant may have no impacts on neonatal cholestasis.