Significance of V444A polymorphism of ABCB11 gene in neonatal cholestasis / 中华实用儿科临床杂志

ABSTRACT

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 enrolled 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 distribution 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.