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目的探讨社区人群血管紧张素转换酶2(ACE2)基因G8790A多态性与原发性高血压的相关性。方法以青岛市四个社区中筛检出的原发性高血压患者236例(病例组)及血压正常者241例(对照组)为研究对象,应用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)鉴定ACE2基因G8790A多态性,并采用多因素Logis-tic回归分析控制混杂因素的影响。结果 ACE2基因G8790A等位基因G在病例组与对照组的频率分别为,男性:71.30%、58.82%,两组比较差异无统计学意义(χ2=3.288,P=0.070);女性:55.86%、45.19%,两组比较差异有统计学意义(χ2=6.400,P=0.011)。基因型AA、AG和GG在女性病例组的频率分别是19.53%、49.22%、31.25%,对照组分别是33.33%、42.95%、23.72%,两组基因型分布比较,差异有统计学意义(χ2=7.015,P=0.030)。相对于AA基因型,AG和GG基因型的居民罹患原发性高血压的危险性均增加(OR=1.99,P=0.022;OR=2.25,P=0.015)。控制年龄、超重、吸烟、饮酒、血脂等混杂因素后,男性:与等位基因A相比,携带等位基因G的居民罹患原发性高血压的危险性增加(OR=2.09,P=0.038);女性:与AA基因型相比,GG基因型的居民罹患原发性高血压的危险性增加(OR=2.69,P=0.015)。结论 ACE2基因G8790A变异与原发性高血压存在相关性,男性携带G等位基因和女性携带GG基因型可能使原发性高血压发生的危险性增加。
Objective To investigate the association between angiotensin converting enzyme 2 (ACE2) gene G8790A polymorphism and essential hypertension in community population. Methods Totally 236 cases of patients with essential hypertension (cases) and 241 cases of normotensive subjects (control group) were screened from four communities in Qingdao City. The polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) to identify ACE2 gene G8790A polymorphism, and using multivariate Logis-tic regression analysis to control the influence of confounding factors. Results The frequencies of allele G of ACE2 gene G8790A in cases and controls were 71.30% and 58.82% respectively, with no significant difference between the two groups (χ2 = 3.288, P = 0.070). Female: 55.86% 45.19%, the difference between the two groups was statistically significant (χ2 = 6.400, P = 0.011). The frequencies of genotypes AA, AG and GG in female cases were 19.53%, 49.22% and 31.25%, respectively, while those in control group were 33.33%, 42.95% and 23.72% respectively. There was significant difference in genotype distribution between the two genotypes χ2 = 7.015, P = 0.030). Residents with AG and GG genotypes were at increased risk of developing essential hypertension (OR = 1.99, P = 0.022; OR = 2.25, P = 0.015) relative to AA genotype. After controlling for confounding factors such as age, overweight, smoking, drinking, blood lipids and other confounders, men: Compared with allele A, residents with allele G were at increased risk of developing essential hypertension (OR = 2.09, P = 0.038 ); Women: Compared with AA genotype, residents with GG genotype had an increased risk of developing essential hypertension (OR = 2.69, P = 0.015). Conclusion There is a correlation between G8790A mutation of ACE2 gene and essential hypertension. The G allele in male and female GG genotype may increase the risk of essential hypertension.