孕烷受体基因rs6785049、rs2276707和rs3814055多态性与胆石症遗传易感性的相关性研究

The associations between the pregane X receptor gene rs6785049,rs2276707 and rs3814055 polymorphisms and the risk of cholesterol gallstone disease

目的有研究显示孕烷受体(pregane X receptor,PXR)的表达与胆结石形成有关。文中研究汉族人群中PXR基因和胆石症(cholesterol gallstone disease,CGD)遗传易感性的关联,探讨核受体PXR基因单核苷酸多态性与遗传易感性的关系。方法采用病例-对照的分子流行病学方法,以聚合酶链反应-限制性片段长度多态性的方法(PCR-RFLP)对178例CGD患者和112例正常对照组中PXR基因3个多态性位点进行基因分型,分析2组基因型频率及等位基因频率,并比较不同基因型与胆结石发病危险的关系。结果 rs6785049多态性位点中GA+AA基因型在CGD中的频率(83.7%)明显高于对照组(65.2%)。rs3814055、rs2276707多态性在胆结石和对照人群的分布无显著差异。结论 PXR基因多态位点rs6785049变异增加了胆结石患病危险性。

Objective Pregane X receptor is a member of nuclear receptor family, which is an important link of the steady- state adjustment in the environment, it can egulate many kinds of gene expression. Recent researches show that PXR expression is related with the gallstones formation. This topic is to investigate the association between PXR gene polymorphisms and the risk of cholesterol gall- stone disease （CGD）. Methods 178 patients and 112 controls were enrolled in the ease-control study, rs6785049,r^814055 and rs2276707 of PXR gene were gerwtypod by PCR-restriction fragment length polymorphism （PCR-RFLP）. The association between the ge- netic polymorphisms and the risk of the CGD was further examined by multivariate analysis. Results There is no significant differences in rs3814055, rs2276707 site polymorphic locialleles in normal controls and CGD, but it is statistical significant between normal controls and CGD in rs6785049. The frequency of the A allele of rs6785049 polymorphism in patients （83.7%） was remarkable higher than that in controls （65.2%, P = 0.001 ）. Conclusion The rs6785049 polymorphism in PXR gene may positively contribute to the susceptibil- ity of CGD.