血管紧张素原M235T基因多态性与原发性高血压的相关研究

目的:探讨浙江汉族人群中血管紧张素原(AGT)基因M235T变异与原发性高血压的关系.方法:对116例高血压病患者与114名正常血压者进行对照研究.采用聚合酶链式反应(PCR)与限制性片段长度多态性(RFLP)技术检测AGT基因M235T变异.同时测量血压、身高、体重、空腹血糖与血脂.结果:①高血压组收缩压与舒张压水平显著高于对照组(P＜0.01);而两组间年龄、性别、体重指数、血糖与血脂差异无显著性(P＞0.05).②经PCR扩增及Tth 111 I酶切,AGT基因型有三种形式:MM、TT与MT基因型.两组AGT基因型的分布均符合Hardy-Weinberg 平衡.③AGT基因M235T基因型在高血压组与对照组的分布差异有显著性(χ2=6.966,P＜0.05).高血压组TT基因型与T235等位基因的频率高于对照组(TT基因型:0.47 vs 0.33,χ2=5.36,P＜0.05;T235等位基因:0.71 vs 0.60,χ2=6.179,P＜0.05).结论:在浙江汉族人群中,AGT基因M235T变异与原发性高血压的发病显著相关,TT基因型或T235等位基因可能是高血压的一个遗传方面的危险因素.

Association of angiotensinogen gene M235T variant with essential hypertension

OBJECTIVE: To investigate the association of the AGT gene M235T variant with essential hypertension in Han population of Zhejiang Province. METHODS: The study included 230 subjects: 116 hypertensive patients and 114 normotensive controls. Polymerase chain reaction (PCR) combined with restrictive fragment length polymorphism (RFLP) was used to detect the M235T variant of angiotensinogen (AGT) gene. Blood pressure, body height and weight, fasting blood glucose and serum lipid were measured in all subjects. RESULTS: (1)The systolic blood pressure and diastolic blood pressure of hypertensive group were significantly higher than those of control group, while no significant difference was observed with regard to age, gender, body mass index, blood glucose, or lipid profile. (2)The genotype distribution of AGT gene in both groups was in agreement with Hardy-Weinberg equilibrium. (3)The genotype distribution of the M235T variant differed significantly in hypertensives and controls (chi(2)=6.966,P<0.05). The frequencies of genotype TT and T235 allele in hypertensives were higher than those in controls (TT genotype: 0.47 compared with 0.33, chi(2)=5.36,P<0.05; T235 allele: 0.71 compared with 0.60, chi(2)=6.179, P<0.05). CONCLUSION: The molecular variant M235T of the AGT gene is significantly associated with essential hypertension in this population. The genotype TT or allele T235 might be a genetic risk factor for hypertension.