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首页> 外文期刊>Journal of Medical Genetics and Genomics >Evidence of association of a common variant of the endothelial nitric oxide synthase gene (Glu298 Asp polymorphism) to coronary artery disease in South Indian population
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Evidence of association of a common variant of the endothelial nitric oxide synthase gene (Glu298 Asp polymorphism) to coronary artery disease in South Indian population

机译：内皮一氧化氮合酶基因（Glu298 Asp多态性）的常见变异与南印度人口冠心病相关的证据

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摘要

Genetic variants of endothelial nitric oxide synthase (eNOS) could influence individual susceptibility to coronary artery disease (CAD) with or without association with demographic factors. This study was designed to assess the Glu298 /Asp variant of the eNOS gene in 79 patients with CAD as compared to equal number (79) of controls. The genotype frequencies for eNOS gene polymorphism were determined by PCR and RFLP, and the results analyzed statistically. Demographic factors were recorded using structured questionnaire. The genotype frequencies for Glu298/Asp (Glu/Glu, Glu/Asp and Asp/Asp) genotypes were 46.83, 30.37 and 22.78% in CAD subjects and 60.75, 31.64 and 7.59% in control subjects, respectively. The genotype frequencies differed significantly (p < 0.05) between the controls and cases. From our regression analysis we found that Glu/Asp variant in association with other factors such as hypertension, smoking, were independent risk factors of CAD, whereas other factors were not CAD independent risk factors. The individuals with eNOS Glu298/Asp variant were at greater risk of CAD, and this might indicate genetic susceptibility to CAD and that eNOS gene (Glu298/Asp) polymorphism could represent a useful genetic marker in identifying individuals at greater risk of developing atherosclerotic disease.
机译：内皮型一氧化氮合酶（eNOS）的遗传变异可能会影响个人对冠状动脉疾病（CAD）的敏感性，无论是否与人口统计学因素相关联。这项研究旨在评估79名患有CAD的eNOS基因的Glu298 / Asp变异体，与相同数量（79）的对照组相比。通过PCR和RFLP确定eNOS基因多态性的基因型频率，并对结果进行统计学分析。使用结构化问卷记录人口统计学因素。 Glu298 / Asp（Glu / Glu，Glu / Asp和Asp / Asp）基因型的基因型频率在CAD受试者中分别为46.83、30.37和22.78％，在对照受试者中分别为60.75、31.64和7.59％。对照和病例之间的基因型频率差异显着（p <0.05）。从我们的回归分析中，我们发现Glu / Asp变异与其他因素（例如高血压，吸烟）是CAD的独立危险因素，而其他因素不是CAD的独立危险因素。具有eNOS Glu298 / Asp变异的个体患CAD的风险更高，这可能表明对CAD的遗传易感性，eNOS基因（Glu298 / Asp）多态性可能代表了有用的遗传标记，可用于识别罹患动脉粥样硬化疾病的更大风险的个体。

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