AT_1R基因多态性对血压的影响

The influence of angiotensin Ⅱ type Ⅰ receptor gene poly morphism on blood pressure

目的 检测血管紧张素Ⅱ的Ⅰ型受体(AT_1R)C1166等位基因在正常人和原发性高血压(EH)患者中的频率,并研究中国汉族人AT_1R基因多态性与原发性高血压的关系.方法 测定120例汉族原发性高血压病人和86个汉族正常人的血压、体重指数、空腹血糖及血胆固醇和甘油三酯浓度.用盐析法提取外周血白细胞DNA,用PCR加上限制性酶切方法检测AT_1R的C1166位基因突变.结果 高血压组除收缩压、舒张压显著高于对照组外,其它临床指标如体重指数、空腹血糖及血脂水平两组间无显著差异;EH患者AT_1R基因AC基因型频率比正常对照组高(0.081vs 0.058,P<0.01),C1166等位基因频率EH组高于正常对照组(0.091vs 0.029,P<0.05);两组中均未发现CC纯合子基因型;进行性别分组后,发现在女性EH患者C1166等位基因频率高于女性正常对照组(0.125 vs 0. 031,P<0.05),在男性EH患者C166频率与男性正常对照组无显著差异(0.072vs O.028,P>0.05);将EH组分为有、无高血压家族史两组,发现有高血压家族史的EH患者C1166频率高于无家族史EH患者(0.123 vs 0.035,P<0.05).结论 在中国汉族人群中,AT_1R基因多态性与原发性高血压有关;C1166等位基因可能是一个高血压的易感基因,并与有家族史的原发性高血压以及女性高血压病密切相关.

Aim To determine the C1166 allele frequency of angiotensin Ⅱ type Ⅰ receptor (AT1R) gene in both Chinese hypertensives and normotensives and to investigate the relationship between AT1R gene polymorphism and essential hypertension in Chinese Han population. Methods Blood pressure, body mass index, fasting blood glucose, serum cholesterol and triglyceride were measured in 120 hypertensives and 86 normotensives. DNA was extracted from peripheral blood leukocytes. Polymerase Chain Reaction(PCR) combined with restriction enzyme digestion was used to detect the variation of A1166 allele. Results The systolic blood pressure and diastolic blood pressure of hypertensive group were significantly higher than those of control while other clinic features such as fasting blood glucose, body mass index and serum lipid level showed no difference between two groups ;The frequencies of AC genotype and C1166 allele of AT1R gene of EH patients were higher than that of control (AC genotype: 181 vs 0. 058,P<0. 01 ;C allele:0. 091 vs 0. 031, P<0. 05),while there was no difference in C allele frequency between male EH and male control. The C allele frequency of EH with hypertension family history(FH) was higher than that of EH without FH(0. 123 vs 0. 035,P<0. 05). Conclusion The AT1R gene polymorphism is associated with essential hypertension and C allele of AT1R gene was closely related to both EH with family history and female EH.