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原发性高血压是一种复杂的多基因疾病,被认为是多个变异了的基因遗传交互以及环境因素共同作用的结果.证据表明,血管紧张素转换酶基因和G蛋白beta3亚基基因各自都是重要的原发性高血压的易感基因,并且可能存在共同的通路来导致高血压疾病的发展.为了探索这两个基因在中国北方汉族人群中是否对高血压有影响,挑选血管紧张素转换酶基因I/D多态与G蛋白beta3亚基基因C825T多态,在一个包含502个高血压病例和490个健康对照的样本中做了关联研究.连锁不平衡分析揭示,仅仅在男性中有显著性的非随机性分布,表明血管紧张素转换酶基因与G蛋白beta3亚基基因倾向在男性中造成高血压.调整了的单位点的多变量逐步回归分析展示,在男性显性模型中DD/ID对Ⅱ的比值比达到显著性水平(OR1.57;95%CI,1.09～2.27;P=0.016).在对性别进行分层后的联合分析中,在男性中经过调整后的比值比具有弱显著性水平:在血管紧张素转换酶基因的DD基因型中,TT对CC的比值比是0.11;95%CI,0.01～0.99;P=0.049;在G蛋白beta3亚基基因的CC+CT基因型中,DD/ID对Ⅱ的比值比是1.52;95%CI,1.01～2.29;P=0.047.结果暗示,血管紧张素转换酶基因或附近的某个基因是具有男性性别倾向的高血压易感侯选基因,同时,在血管紧张素转换酶基因基因的D等位基因和G蛋白beta3亚基基因的825C等位基因之间,可能存在具有上位效应的基因-基因相互作用.
Essential hypertension is a complex polygenic disease that is thought to be the result of a combination of multiple, altered genetic interactions and environmental factors that demonstrate that the angiotensin-converting enzyme and G protein beta3 subunits, respectively Are important susceptible genes of essential hypertension and there may be common pathways leading to the development of hypertensive disorders.To explore whether these two genes have an impact on hypertension in northern Chinese Han populations, Correlation between the I / D polymorphism of the prime converting enzyme gene and the C825T polymorphism of the G protein beta3 subunit gene in a sample of 502 hypertensive cases and 490 healthy controls revealed that only in males , Indicating a significant non-random distribution of angiotensin-converting enzyme gene and G protein beta3 subunit gene causing hypertension in males. A multivariate stepwise regression analysis of the adjusted single-place-point showed that in the male dominant model The ratio of DD / ID to II reached a significant level (OR 1.57; 95% CI, 1.09-2.27; P = 0.016). In stratified sex-matched cohorts, adjusted for men The ratio of TT to CC was 0.11; 95% CI, 0.01-0.99; P = 0.049; in the G protein beta3 subunit gene The ratio of DD / ID to Ⅱ was 1.52; 95% CI, 1.01-2.29; P = 0.047. The results suggested that the angiotensin converting enzyme gene or a certain gene in the vicinity of the genotype had a male gender Prone to high blood pressure susceptibility gene candidate, at the same time, in the angiotensin converting enzyme gene D allele and G protein beta3 subunit gene 825C allele, there may be epistatic effects of gene - gene mutual effect.