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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。
PURPOSE Essential hypertension is a polygenic disease that is affected by heredity and various environmental factors. The renin-angiotensin-aldosterone system (RAAS) plays an important role in the regulation of salt metabolism, the regulation of blood pressure and the pathogenesis of hypertension. This study was designed to investigate the relationship between ACE gene insertion / deletion (I / D) mutation and essential hypertension in Han population in Shanghai, China. Subjects and Methods 200 unrelated patients with essential hypertension (EH) and 185 normotensive subjects (NT) in Shanghai were selected. Salting out of genomic DNA from peripheral blood leukocytes. Polymerase chain reaction (PCR) and three primers were used to identify the genotypes of ACE gene I / D variation. Results The distribution of genotypes in EH group and NT group was in accordance with Hardy-Weinberg equilibrium. Differences in genotype distribution between case group and control group were analyzed by explicit model (ID + DDvs.Ⅱ) and additive model (DDvs.IDvs.Ⅱ) respectively. After adjusting for age, sex, and body mass index using Logistic regression models, subjects with ACED alleles had an increased predisposition to essential hypertension compared with carriers of the I allele (dominant mode: OR = 2.27, 95% Letter limit 1.41-3.65, P = 0.001; Additive pattern: OR = 2.02, 95% confidence limit 1.38-2.96, P = 0003). Conclusion The ACE gene I / D variation is associated with the predisposition to essential hypertension in Han Chinese population in Shanghai.