Klotho基因G-395A多态性与动脉硬化的相关性研究

目的研究重庆市汉族人群Klotho基因启动子区域G-395A单核苷酸多态性的分布,探讨该多态性位点与动脉硬化的相关性。方法232例健康体检者均进行臂踝脉搏波传导速度测定,并记录动脉硬化的传统危险因素,根据测定结果分为动脉硬化组(130例)和对照组(102例)。应用TaqMan探针等位基因特异性杂交分析法对Klotho基因G-395A多态性位点进行分析。结果G-395A多态性位点共检测出GG、GA、AA3种基因型,频率分别为60.3%、34.1%和5.6%,符合Hardy-Weinberg平衡。动脉硬化组-395A等位基因的频率显著低于对照组(33.1%vs48.0%,P=0.022)。logistic回归分析,调整传统危险因素后-395A与动脉硬化呈负相关(P=0.042,OR=0.537,95%CI:0.295~0.977)。结论Klotho基因-395A等位基因可能是动脉硬化的遗传学保护因素。

Association of G-395A polymorphism of human Klotho gene with arteriosclerosis

Objective To investigate the distribution of G-395A polymorphism in promoter of Klotho gene in Chongqing Han population in China and analyze its association with arteriosclerosis.Methods Genotyping of G-395A polymorphism was performed in 130 arteriosclerotic patients and 102 controls using an allelic discrimination assay with TaqMan probes.Brachial-ankle pulse wave velocity was measured as a marker of atherosclerotic vascular damage.Results Genotype frequencies of GG,GA and AA were 60.3%,34.1% and 5.6% respectively.The distribution was in accordance with Hardy-Weinberg equilibrium.The frequency of the A allele carriers was significantly lower in the arteriosclerosis group than in the control group(33.1% vs 48.0%,P=0.022).Logistic regression analysis revealed that after adjusted for traditional risk factors,the A allele was negatively correlated with arteriosclerosis(P=0.042,OR=0.537,95%CI:0.295-0.977).Conclusion The A allele of G-395A polymorphism of Klotho gene may be a protective factor against arteriosclerosis.