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内皮型一氧化氮合酶基因多态性与北印度旁遮普人群冠心病的相关性。

Association of Endothelial Nitric Oxide Synthase Gene Polymorphisms with Coronary Artery Disease in North Indian Punjabi Population.

机构信息

Multidisciplinary Research Unit, Government Medical College, Amritsar, Punjab, 143001, India.

Department of Pharmacology, Government Medical College, Amritsar, Punjab, India.

出版信息

Biochem Genet. 2022 Dec;60(6):2120-2136. doi: 10.1007/s10528-022-10208-5. Epub 2022 Mar 8.

Abstract

Nitric oxide (NO) a potent vasodilator synthesized by endothelial cells has anti-atherosclerotic properties and maintains vascular tone. It has been documented that its reduced bioavailability in vascular endothelium plays an important role in the development and progression of coronary artery disease (CAD). Therefore, we aimed to investigate the association of - 786 T > C and 894 G > T polymorphisms of eNOS with CAD. This study included 211 CAD patients and 260 controls of North Indian Punjabi population. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Logistic regression analysis revealed that the TC and CC genotypes of - 786 T > C were significantly associated with the higher risk of CAD (OR: 2.00, p = 0.001: OR: 4.63, p = 0.001, respectively). Similarly, the GT and TT genotypes of 894 G > T were found to be significantly associated with the higher risk of CAD (OR: 1.96, p = 0.001; OR: 4.54, p = 0.005, respectively). Moreover, the recessive model in  - 786 T > C (OR: 3.58, p = 0.002) and 894 G > T (OR: 3.62, p = 0.009) polymorphisms provided 3.6-fold increased risk for CAD. Furthermore, the CG, TT, and CT haplotypes were also associated with the increased risk of CAD (OR: 2.1, p = 0.001; OR: 2, p = 0.002; OR: 3.1, p = 0.001, respectively). In addition, the CC genotype of - 786 T > C and GT genotype of 894 G > T were significantly associated with higher levels of triglycerides (TG) and very low-density lipoproteins cholesterol (VLDL-C). The present study reported the association of - 786 T > C and 894 G > T polymorphisms of eNOS with CAD and abnormal lipid levels in North Indian Punjabi population.

摘要

一氧化氮(NO)是一种由内皮细胞合成的强效血管舒张剂,具有抗动脉粥样硬化特性并维持血管张力。已经证明,血管内皮中其生物利用度的降低在冠状动脉疾病(CAD)的发展和进展中起着重要作用。因此,我们旨在研究内皮型一氧化氮合酶(eNOS)的-786T> C 和 894G> T 多态性与 CAD 的关系。本研究包括 211 例 CAD 患者和 260 例北印度旁遮普人群对照。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行基因分型。逻辑回归分析显示,-786T> C 的 TC 和 CC 基因型与 CAD 的较高风险显著相关(OR:2.00,p=0.001;OR:4.63,p=0.001)。同样,894G> T 的 GT 和 TT 基因型也与 CAD 的较高风险显著相关(OR:1.96,p=0.001;OR:4.54,p=0.005)。此外,-786T> C(OR:3.58,p=0.002)和 894G> T (OR:3.62,p=0.009)多态性的隐性模型为 CAD 提供了 3.6 倍的风险增加。此外,CG、TT 和 CT 单倍型也与 CAD 风险增加相关(OR:2.1,p=0.001;OR:2,p=0.002;OR:3.1,p=0.001)。此外,-786T> C 的 CC 基因型和 894G> T 的 GT 基因型与甘油三酯(TG)和极低密度脂蛋白胆固醇(VLDL-C)水平升高显著相关。本研究报告了 eNOS 的-786T> C 和 894G> T 多态性与北印度旁遮普人群 CAD 和异常血脂水平的关系。

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