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eNOS Gene Variant in Patients with Coronary Artery Disease

机译:冠心病患者eNOS基因变异

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摘要

Subject & Aim. Endothelial nitric oxide synthase (eNOS) is one of the most important candidate genes in CAD. A functional polymorphism within eNOS gene is a 27 bp VNTR on its intron 4 which has been shown to be associated with various diseases. In this study we investigated eNOS VNTR polymorphism in addition to eNOS gene expression profile in patients with CAD. Material and Methods. The study comprised patients with angiographically confirmed CAD (CAD+) and individuals with normal coronary as CAD. eNOS VNTR polymorphism frequencies were determined in both groups. In addition eNOS gene expression profile was examined using a quantitative real-time PCR. Results. We have found that aa genotype was significantly increasing the risk of CAD in our patients (aa versus ab + bb, P = 0.02, OR = 3.5; 95% CI: = 0.98 to 16.2). The differences in eNOS expression were not significant between patients and normal group; however in CAD+ patients eNOS expression was higher than the expression level of patients carrying other genotypes (P = 0.16). Conclusion. We have observed that eNOS gene polymorphism was associated with CAD in angiography-confirmed patients. However, the difference in eNOS gene expression was not statistically significant between patients and control which might be due to the contribution of other confounding factors which require further investigations.
机译:主题与目的。内皮型一氧化氮合酶(eNOS)是CAD中最重要的候选基因之一。 eNOS基因内的一个功能多态性是内含子4上一个27bp的VNTR,已被证实与多种疾病有关。在这项研究中,我们研究了eNOS VNTR基因多态性以及CAD患者的eNOS基因表达谱。材料与方法。该研究包括经血管造影证实为CAD(CAD + )的患者和冠状动脉正常的个人为CAD -。两组均确定了eNOS VNTR多态性频率。另外,使用定量实时PCR检查eNOS基因表达谱。结果。我们发现,aa基因型显着增加了我们患者的CAD风险(aa与ab + bb,P = 0.02,OR = 3.5; 95%CI:= 0.98至16.2)。患者与正常组之间eNOS表达的差异无统计学意义。然而,在CAD + 患者中,eNOS的表达高于携带其他基因型的患者的表达水平(P = 0.16)。结论。我们已经观察到,eNOS基因多态性与血管造影证实的患者的CAD相关。但是,eNOS基因表达的差异在患者和对照组之间没有统计学意义,这可能是由于其他混杂因素的影响,需要进一步研究。

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