血管紧张素转换酶基因变异与上海地区汉族人群原发性高血压易感性相关表达变化的实验研究

Insertion/deletion Variation in Angiotensin Converting Enzyme Gene is Associated with Susceptibility to Essential Hypertension in Shanghai Han Population

目的原发性高血压是一种多基因病,受遗传及多种环境因素的影响。肾素-血管紧张素-醛固酮系统(RAAS)在调节盐代谢、血压的调控及高血压的发病中起着重要作用。本研究旨在探讨血管紧张素转换酶(ACE)基因插入/缺失(insertion/deletion,I/D)变异与中国上海地区汉族人群原发性高血压的关系。对象与方法选择上海地区无血缘关系的原发性高血压患者(EH)200例及血压正常的对照个体(NT)185例。盐析法提取外周血白细胞中的基因组DNA。应用聚合酶链式反应(PCR)、三条引物法对ACE基因I/D变异进行基因型鉴定。结果EH组与NT组基因型分布符合Hardy-Weinberg平衡。分别采用显性模型(ID+DDvs.Ⅱ)及加性模型(DDvs.IDvs.Ⅱ)分析基因型分布在病例组与对照组之间的差异。用Logistic回归模型校正了年龄、性别及体重指数后,ACED等位基因携带者与I等位基因携带者相比,原发性高血压易感性增加(显性模式:OR=2.27,95%可信限1.41-3.65,P=0.001;加性模式:OR=2.02,95%可信限1.38-2.96,P=0003)。结论ACE基因I/D变异与上海地区汉族人群原发性高血压的易感性相关。

Objectives To investigate the association between the insertion/deletion （I/D） variation in angiotensin converting enzyme （ACE） gene and essential hypertension. Methods The I/D variation in ACE gene was detected in 200 essential hypertensive patients and 185 normotensive controls by Triple primer method and polymerase chain reaction. Result Allele frequencies did not deviate from Hardy-Weinberg equilibrium （P 〉 0.05 ）. Genotype analyses were conducted for beth.dominant and additive models. There was a significant difference of ACE I/D genotypes frequency distribution between cases and controls. The D allele of the ACE gene showed significantly increased risk of essential hypertension （ dominant model： Odds ratio[ OR] 2.27, 95 % confidence interval [ CI ] 1.41 to 3.65, P = 0.001 ; additive model： OR 2.02, 95% CI 1.38 to 2.96, P = 0003 ） than I allele. Conclusions Our study suggests that the presence of D allele in ACE gene is associated with increased susceptibility to essential hypertension in Shanghai Han population.