四川地区汉族人群IL-10、TNF-α及INF-γ基因多态性与风湿性心脏病的临床关联研究

The Clinical Association Between IL-10,TNF-αand INF-γGene Polymorphisms and Rheumatic Heart Disease in Han Population of Sichuan Area

目的探讨四川地区汉族RHD人群TNF-α、INF-γ及IL-10基因多态性改变与RHD之间的相关性。方法收集110例RHD患者(实验组)及200例对照者(对照组)外周血,通过PCR扩增与测序测定TNF-α、INF-γ及IL-10基因多态性在两组间的差异分布。结果TNF-α(-238)、INF-γ(+874)和IL-10(-819,-592)基因多态性位点基因型与等位基因频率差异具有统计学意义,TNF-α(-308)和IL-10(-1082)基因多态性位点在两间差异无统计学意义。结论TNF-α(-308)和IL-10(-1082)基因多态性位点改变可能与RHD发病无关,并初步验证了TNF-α(-238)、INF-γ(+874)和IL-10(-819,-592)基因多态性位点变异可能是四川地区汉族RHD患者的易感基因位点。

Objective The aim of this study was to investigate the association between TNF-α,INF-γand IL-10 gene polymorphisms and RHD in Han Chinese RHD population.Methods Peripheral blood was collected from 110 patients with RHD and 200 controls.The differential distributions of TNF-α,INF-γand IL-10 gene polymorphisms between the experimental group and the control group were determined by PCR amplification and sequencing.Results TNF-α(-238),INF-γ(+874)and IL-10(-819,-592)gene polymorphism genotypes and allele frequencies were significantly different,while TNF-α(-308)and IL-10(-1082)gene polymorphism site was not significantly different between the experimental group and the control group.Conclusion The polymorphisms of TNF-α(-308)and IL-10(-1082)genes could be unrelated to the pathogenesis of RHD,and preliminary verification of TNF-α(-238),INF-γ(+874)and IL-10(-819,-592)gene polymorphism variation might be a susceptibility locus in Han Chinese RHD patients in Sichuan area.