血管紧张素转化酶基因多态性与高血压病的关联研究

Correlation between gene polymorphism of angiotensin converting enzyme and hypertension

目的:探讨血管紧张素转换酶(ACE)基因多态性(insertion,I/deletion,D)与高血压病的相关性。方法:收集176例心功能正常的高血压病患者(EH组)及与之性别、年龄、居住地相匹配的血压、心功能正常对照组176例。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测ACE(I/D)多态性基因型。采用x2检验比较两组不同基因型及基因型组合分布频率,Hardy-Weinberg平衡用拟合良好x2检验。结果:1、Hardy-Weinberg遗传平衡检验示:ACE基因不同基因型分布符合Hardy-Weinberg遗传平衡(P均>0.05),样本具有群体代表性;2、与正常对照组比较,EH组ACE基因的II(42.61%比43.18%)和DD(10.80%比12.50%)基因型频率明显增高,ID(46.59%比44.31%)基因型频率明显降低(P<0.05)。结论:ACE基因I/D多态性与高血压有显著相关。

Objective： To investigate correlation between gene polymorphism of angiotensin converting enzyme （ACE） （insertion, I/deletion, D） and essential hypertension （EH）. Methods.. A total of 176 EH patients with normal cardiac function were enrolled as EH group, and another 176 subjects withcorresponding gender, age, residence, normal blood pressure and cardiac function were regard as normal control group. Polymerase chain reactionrestriction fragment length polymorphism （PCR-RFLP） was used to detect ACE （I/D） polymorphism genotype. Chi-square test was used to compare different genotypes and distribution frequency of genotype combinations between two groups and chi-square test with goodness of fit was used to analyze Hardy-Weinberg balance. Results： 1. Hardy-Weinberg genetic equilibrium test indicated that different genotype distribution of ACE gene was consistent with Hardy-Weinberg genetic equilibrium （P〉0.05 all）, and the sample possessed group representation; 2. Compared with normal control group, there were significant increase in genotype frequencies of II （42.61% vs. 43.18%） and DD （10.80% vs. 12.50%）, and significant decrease in genotype frequency of ID （46. 59% vs. 44. 31%） in EH group, P〈0.05 all. Conclusion： I/D polymorphism of angiotensin converting enzyme gene is significantly correlated with essential hypertension.