醛固酮合成酶、血管紧张素转换酶基因多态性及环境因素与高血压病中风先兆证的关系

目的:探讨血管紧张素转换酶(ACE)基因插入/缺失(I/D)和醛固酮合成酶(CYP11B2)基因-344T/C多态性及环境因素与高血压病(EH)中风先兆证的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法,检测116例EH中风先兆证患者和与之1∶1相匹配(按性别、年龄±3岁、居住地)的正常对照组CYP11B2-344T/C基因型,同时用PCR法检测ACE(I/D)基因型。结果:ACE-DD基因型频率在EH中风先兆证组显著高于对照组(P<0.05),CYP11B2-TT基因型频率分布无差异(P>0.05)。多因素条件Logistic回归筛选出荤食、急躁易怒及ACE-DD基因型为主要危险因素,而ACE-DD型OR为2.834(95%CI,1.232-6.518)。结论:ACE基因I/D多态性与EH中风先兆证显著关联,此关系在调整了中医传统危险因素后依然存在,并提示在发病的过程中是环境与遗传共同作用的结果。

Study on relation among polymorphism of aidosterone synthase(CYP11B2),angiotensin donverting enzyme(ACE),environmental factors and hypertensive subjects with threatened apoplexy

Objective: To explore the relation among genetic polymorphisms of angiotensin converting enzyme(ACE) insertion/deletion(I/D),aldosterone synthase(CYP11B2) -344T/C,environmental factors and threatened apoplexy of hypertension(TAEH) in Chinese people.Methods: 116 cases of hypertension subjects with threatened apoplexy were genotyped for the ACE I/D and CYP11B2-344T/C polymorphisms,and the two gene polymorphic frequencies were compared in patients with TAEH and individual age and gender-matched normotensive control subjects.Information about prior exposure to various potential risk factors was also obtained by TCM.Results: Compared with normal group,the ACE-DD genotypic frequency in TAEH group increased significantly(P<0.05).There was no obviously difference of CYP11B2 -TT genotypic frequency between patinents with TAEH and normotensive control subjects(P>0.05).A multivariate conditional logistic regression analysis revealed that meat,hot-tempered and ACE-DD genotype were the main risk factors for the attack of TAEH.The higher prevalence of ACE-DD homozygote was noted.After adjustment for TCM risk factors of TAEH,and ACE-DD homozygote was still significantly with TAEH in Chinese,Odds ratio of ACE-DD genotype is 2.834(95% confidence interval,1.232-6.518).Conclusion: The polymorphisms of ACE gene I/D are significantly associated with TAEH,and may serve as the novel genetic marker for the risk of TAEH.It is suggested that environmental factors and genetic traits are interacted in the etiology of TAEH.