Colombo M G, Andreassi M G, Paradossi U, Botto N, Manfredi S, Masetti S, Rossi G, Clerico A, Biagini A
CNR Institute of Clinical Physiology, G Pasquinucci Hospital, Massa, Italy.
Heart. 2002 Jun;87(6):525-8. doi: 10.1136/heart.87.6.525.
Genetic variants of endothelial nitric oxide synthase (eNOS) could influence individual susceptibility to coronary artery disease.
To assess whether Glu298-->Asp polymorphism of the eNOS gene is associated with the occurrence and severity of angiographically defined coronary artery disease in the Italian population.
Polymerase chain reaction/restriction fragment length polymorphism analysis was done to detect the Glu298-->Asp variant of the eNOS gene in 201 patients with coronary artery disease and 114 controls. The severity of coronary artery disease was expressed by the number of affected vessels and by the Duke scoring system.
The frequencies of the eNOS Glu/Glu, Glu/Asp, and Asp/Asp genotypes in the coronary artery disease group were significantly different from those of controls (45.3%, 38.8%, and 15.9% v 42.1%, 51.8%, and 6.1%, respectively; chi2 = 8.589, p = 0.0136). In comparison with subjects who had a Glu298 allele in the eNOS gene, the risk of coronary artery disease was increased among Asp/Asp carriers (odds ratio 2.9, 95% confidence interval 1.2 to 6.8, p = 0.01) and was independent of the other common risk factors (p = 0.04). There was a significant association between the eNOS Glu298-->Asp variant and both the number of stenosed vessels (mean (SEM), 2.3 (0.1) for Asp/Asp v 1.9 (0.1) and 1.8 (0.1) for Glu/Glu and Glu/Asp, respectively; p = 0.01) and the Duke score (56.1 (3.1) for Asp/Asp v 46.7 (2.0) and 46.1 (1.9) for Glu/Glu and Glu/Asp, respectively; p = 0.02).
Glu298-->Asp polymorphism of the eNOS gene appears to be associated with the presence, extent, and severity of angiographically assessed coronary artery disease.
内皮型一氧化氮合酶（eNOS）的基因变异可能影响个体患冠状动脉疾病的易感性。
评估eNOS基因Glu298→Asp多态性是否与意大利人群中经血管造影定义的冠状动脉疾病的发生及严重程度相关。
采用聚合酶链反应/限制性片段长度多态性分析，检测201例冠状动脉疾病患者和114例对照者eNOS基因的Glu298→Asp变异。冠状动脉疾病的严重程度通过受累血管数量和杜克评分系统表示。
冠状动脉疾病组中eNOS Glu/Glu、Glu/Asp和Asp/Asp基因型的频率与对照组显著不同（分别为45.3%、38.8%和15.9%，对照组分别为42.1%、51.8%和6.1%；χ2 = 8.589，p = 0.0136）。与eNOS基因中有Glu298等位基因的受试者相比．Asp/Asp携带者患冠状动脉疾病的风险增加（优势比2.9，95%置信区间1.2至6.8，p = 0.01），且独立于其他常见危险因素（p = 0.04）。eNOS Glu298→Asp变异与狭窄血管数量（Asp/Asp组平均（标准误）为2.3（0.1），Glu/Glu组和Glu/Asp组分别为1.9（0.1）和1.8（0.1）；p = 0.01）及杜克评分（Asp/Asp组为56.1（3.1），Glu/Glu组和Glu/Asp组分别为46.7（2.0）和46.1（1.9）；p = 0.02）均存在显著关联。
eNOS基因Glu298→Asp多态性似乎与经血管造影评估的冠状动脉疾病的存在、范围及严重程度相关。
