eNOS基因5’侧翼区T-786C多态性与冠心病的相关性研究

The correlation between T-786C polymorphism in the 5'-flanking region of endothelial nitric oxide synthase gene and coronary artery disease

目的探讨内皮型一氧化氮合酶（eNOS）基因5’侧翼区T-786C多态性与中国汉族人冠心病和冠状动脉狭窄支数的关系。方法依据eNOS基因5’侧翼区T-786C位点设计引物，应用多聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析方法检测136例经冠状动脉造影证实的冠心病（冠心病组）和77例非冠心病（对照组）患者的eNOS基因T-786C多态性。结果（1）冠心病组TT＋TC和CC基因型频率分别为72．8％、25．7％、1．5％，对照组分别为92．2％、6．7％、0（χ^2=11．5，P〈0．01）；（2）冠心病组C等位基因的频率高于对照组C等位基因的频率（14．3％比3．9％，χ^2=11．5，P〈0．01）；（3）多元logistic回归显示eNOS T-786C基因多态性是冠心病的独立危险因素（OR值5．261，95％CI：2．010～13．768）；（4）在1、2、3支冠脉血管狭窄组中。TC＋CC基因型频率分布分别为21．4％、25．0％和33．3％（χ^2=1．83，P〉0．05），C等位基因频率分别为10．7％、12．5％、18．5％（χ^2=2．66，P〉0．05）。结论（1）eNOS T-786C基因多态性是冠心病的遗传危险因素，并独立于冠心病其它的经典危险因素；（2）eNOS T-786C基因多态性与冠脉狭窄的支数元关。

Objective To investigate the correlation between T -786C polymorphism at promoter in the 5＇ -flanking region of the endothelial nitric oxide synthase gene and the number of stenosed coronary arteries and coronary artery disease in Chinese Hans. Methods The primer was designed based on the site of T-786C in the 5＇ -flanking region of endothelial nitric oxide synthase gene. 136 coronary artery disease and 77 controls were defined by coronary angiogr.aphy. The number of T-786C polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results （ 1 ） The frequency of TC ＋ CC genotype were significantly higher in coronary artery disease group than in control（27.2% vs 6.7% ,χ^2 = 11.5,P 〈0.01） ; （2） The frequency of C allele gene were significantly higher in coronary artery disease group than in control （ 14.3% vs3.9%, χ^2 = 11.3, P 〈 0.01 ） ; （3） Multivariate logistic regression analysis showed that T-786C polymorphism in the 5＇ -flanking region of endothelial nitric oxide synthase gene was a independent risk factor for coronary artery disease, （OR 5.261,95% CI：2.010-13.768） ;（4）The frequency of TC ＋ CC genetypes were 21.4% ,25.0% and 33.3% （χ^2 = 1.83,P 〉0.05） respectively,and the frequency of C allele gene were 10.7% ,12.5% ,18.5% （χ^2 =2. 66,P 〉 0.05） respectively in 1,2,3 stenosed coronary arteries. The differences among these three groups were not significant in statistics. Conclusions （ 1 ） T-786Cpolymorphism at promoter in the 5 ＇ -flanking region of eNOS gene are related to angiography defined coronary artery disease in Chinese Hans. It＇ s a inherit risk factor for coronary artery disease and it appears a independent factor to other classics risk factors; （2） There is no correlation between the number of stenosed coronary arteries and the frequencies of the eNOS genotypes.