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目的探讨N~(5,10)-亚甲基四氢叶酸还原酶基因(MTHFR)C677T多态性与原发性高血压病(EH)的关系。方法收集两家省级住院的原发性高血压病患者(EH)252例,健康体检正常血压者(NT)195例,抽外周静脉血提取DNA,采用聚合酶链反应-限制性片段长度(PCR-RFLP)多态性分析,检测MTHFR基因型。结果两组CC、CT和TT三种基因型构成比总的卡方检验示分布差异显著(X~2=12.731,P<0.005),EH组T等位基因高于NT组,差异有统计学意义(X~2=13.456,P<0.005);经进一步卡方分割检验显示CT/TT基因型在EH组构成比高于NT组,差异显著(X~2= 11.367,P<0.005),调整年龄、性别、血糖、肌酐、尿素氮、体重指数和血清尿酸水平后CT/TT基因型人群患EH危险性是CC基因型的1.964倍(OR=1.964,95%CI:1.302～2.961,P=0.001)。结论MTHFR基因CT/TT基因型可能是南方高血压病住院人群的发病危险因素之一。
Objective To investigate the relationship between N ~ (5,10) - methylenetetrahydrofolate reductase gene (MTHFR) C677T polymorphism and essential hypertension (EH). Methods Two hundred and fifty-two inpatients with essential hypertension (EH) were enrolled in this study. One hundred and ninety-five healthy subjects were enrolled in this study. Peripheral venous blood was collected for DNA extraction. Polymerase chain reaction-restriction fragment length PCR-RFLP) polymorphism analysis to detect MTHFR genotypes. Results There were significant differences in the distribution of CC, CT and TT genotypes between the two groups (P> 0.05). The T allele of EH group was higher than that of NT group (X ~ 2 = 13.456, P <0.005). Further chi-square test showed that the ratio of CT / TT genotype in EH group was significantly higher than that in NT group (X ~ 2 = 11.367, P <0.005) Age, sex, blood glucose, creatinine, urea nitrogen, body mass index and serum uric acid levels in patients with CT / TT genotype of EH risk 1.964 times the CC genotype (OR = 1.964,95% CI: 1.302 ~ 2.961, P = 0.001). Conclusion The CT / TT genotype of MTHFR gene may be one of the risk factors for the inpatients with southern hypertension.