内皮素转化酶1启动子区T-839G基因多态性与颈动脉粥样硬化的相关性

Correlation between T-839G gene polymorphism of the endothelin-converting enzyme-1 promoter and carotid atherosclerosis

目的研究内皮素转化酶1（ECE-1）启动子T-839G基因多态性与颈动脉粥样硬化的相关性。方法选择经DSA或CTA、MRA诊断的颈动脉粥样硬化患者及与之年龄和性别相匹配的对照者，各518例。采用多聚酶链反应-限制性片段长度多态性（PCR—RFLP）的方法检验ECE-1启动子区T-839G基因多态性。结果两组TT、TG、GG基因型分布差异无统计学意义（χ^2=4．674，P〉0．05），颈动脉粥样硬化组等位基因频率T略高于对照组（92．3％，89．8％），G略低于对照组（7．7％，10．2％），差异有统计学意义（χ^2=3．993，P〈0．05）。两组总计（GG＋TG）／TT的基因型频率差异虽无统计学意义，但按性别和年龄分层后，显示女性和〈64岁者（GG＋TG）／TT基因型频率对照组均高于颈动脉粥样硬化组（女性：OR=0．59；95％CI：0．37～0．94；P=0．03。〈64岁者：OR=0．61；95％CI：0．38～0．97；P=0．04）结论ECE-1启动子区T-839G多态位点G等位基因可能降低女性及年龄〈64岁者颈动脉粥样硬化发生的危险性。

Objective To investigate the correlation between T-839G gene polymorphism of the endothelin-eonverting enzyme-1（ ECE-1 ） promoter and carotid atheroselerosis. Methods A group of patients with carotid atherosclerosis diagnosed by Digital subtraction angiography （DSA） , computed tomography angiography （CTA） or magnetic resonance angiography （MRA） and a group of age- and sexmatched controls were enrolled in the study （518 cases in each group）. The polymerase chain reaction-re- striction fragment length polymorphism （PCR-RFLP） was used to detect the ECE-1 T-839G gene polymorphism of the 2 groups. Results There were no significant differences in TT, TG, and GG genotype distributions in both groups （χ^2=4. 674, P 〉 0.05）. The T frequency in the carotid atherosclerotic group was slightly higher than that in the control group （92.3% vs 89.8% ）, and the G frequency was slightly lower than that in the control group （7.7% vs 10.2% ） , and there were significant differences （χ^2 = 3. 993, P 〈 0.05）. Although there were no significant differences in the total （ GG ＋ TG） /TT genotype frequencies between the 2 groups, it showed that the genotype frequencies of the females and the subjects aged 〈64 in the control group were significantly higher than those in the carotid atherosclerotie group after being stratified by age and sex （ females ： OR = 0. 59 ; 95% CI O. 37 - 0. 94, P = 0. 03 ; subjects aged 〈 64 ： OR = 0.61 ; 95% CI 0. 38 -0.97, P = 0.04）. Conclusion The ECE-1 -839G allele may decrease the risk of carotid atherosclerosis in females and in those aged 〈 64 years.