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基因多态性与冠状动脉疾病易感性的关联:一项病例对照研究。

Association of the gene polymorphisms with coronary artery disease susceptibility: A case-control study.

作者信息

Mehrabi Pour Mahsa, Nasiri Mahboobeh, Kamfiroozie Hajar, Zibaeenezhad Mohammad Javad

机构信息

Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran.

Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

J Cardiovasc Thorac Res. 2019;11(2):109-115. doi: 10.15171/jcvtr.2019.19. Epub 2019 Jun 25.

Abstract

Endothelial nitric oxide synthase (eNOS), the main regulator of cardiac cell functioning, is regulated post-transcriptionally by autophagy-related 9B () gene. The proper function of the heart is partly determined by the intact interaction of these molecules. The present study aimed to investigate the effects of ATG9B rs2373929 and rs7830 gene polymorphisms on the predisposition to coronary artery disease (CAD). In this hospital-based case-control study, 150 patients with CAD compared with 150 healthy subjects for the genotype distributions of rs2373929 and rs7830 polymorphisms using T-ARMS PCR and ARMS PCR, respectively. Considering rs2373929 polymorphism, increased risk of CAD observed in the presence of TT genotype (OR: 3.65; 95% CI: 1.77-7.53; < 0.001) and also in the recessive model for T allele (OR: 3.41; 95% CI: 1.76- 6.60; < 0.001). The frequency of the T allele was higher in cases compared to controls (OR: 1.71; 95% CI: 1.24-2.28; P = 0.001). The genotype and allele frequencies of the rs7830 polymorphism did not differ between the two study groups. The gene rs2373929 polymorphism might involve in the pathogenesis of the CAD and can be considered as a screening molecular marker in the subjects prone to CAD.

摘要

内皮型一氧化氮合酶(eNOS)是心脏细胞功能的主要调节因子,受自噬相关9B(ATG9B)基因的转录后调控。心脏的正常功能部分取决于这些分子的完整相互作用。本研究旨在探讨ATG9B基因rs2373929和rs7830多态性对冠状动脉疾病(CAD)易感性的影响。在这项基于医院的病例对照研究中,分别采用T-ARMS PCR和ARMS PCR对150例CAD患者和150名健康对照者进行rs2373929和rs7830多态性的基因型分布比较。考虑rs2373929多态性,TT基因型存在时CAD风险增加(OR:3.65;95%CI:1.77 - 7.53;P<0.001),在T等位基因的隐性模型中也增加(OR:3.41;95%CI:1.76 - 6.60;P<0.001)。病例组中T等位基因的频率高于对照组(OR:1.71;95%CI:1.24 - 2.28;P = 0.001)。rs7830多态性的基因型和等位基因频率在两个研究组之间没有差异。ATG9B基因rs2373929多态性可能参与CAD的发病机制,可被视为CAD易感人群的筛查分子标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90e6/6669433/7e300c741cf0/jcvtr-11-109-g001.jpg

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