Cardiology Department, Shiraz University of Medical Sciences, Shiraz, Iran.
School of Medicine, Jahrom University of Medical Sciences, Jahrom, Iran.
Herz. 2021 Feb;46(1):71-75. doi: 10.1007/s00059-019-04841-x. Epub 2019 Aug 29.
In recent decades, due to the high prevalence of coronary artery disease (CAD) and myocardial infarction (MI), numerous studies have attempted to elucidate genetic contributing factors in these complex disorders. A very interesting gene in this regard is GATA-binding protein 2 (GATA2), an important regulator of various gene expressions in vascular endothelial cells. Accordingly, the association of different GATA2 polymorphisms with CAD and MI has already been evaluated. Rs2713604 is a genetic marker whose association with CAD has not been reproduced in previous studies. Considering the importance of replicating the initial association, the present case-control study aimed to examine the association of this intronic variant with premature MI in a sample of the Iranian population. In this study, 193 participants from Jahrom Hospital (Jahrom, Iran) were consecutively recruited during a 1.5-year period, and, following blood sampling, genomic DNA was extracted. We then proceeded to genotype rs2713604 using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and statistically analyzed the data. After adjustment for hyperlipidemia, hypertension, and type 2 diabetes mellitus, the results of the multivariate regression analysis showed no significant association between rs2713604 and premature MI. Interestingly, the risk allele (A-allele) of rs2713604 displayed a slightly higher frequency among controls compared to cases.
近几十年来,由于冠心病(CAD)和心肌梗死(MI)的高发,许多研究试图阐明这些复杂疾病的遗传因素。在这方面一个非常有趣的基因是 GATA 结合蛋白 2(GATA2),它是血管内皮细胞中各种基因表达的重要调节剂。因此,已经评估了不同 GATA2 多态性与 CAD 和 MI 的相关性。rs2713604 是一个遗传标记,其与 CAD 的相关性在以前的研究中没有得到重现。考虑到复制初始关联的重要性,本病例对照研究旨在检查这种内含子变体与伊朗人群中早发性 MI 的关联。在这项研究中,193 名参与者来自 Jahrom 医院(伊朗 Jahrom),在 1.5 年期间连续招募,并在采血后提取基因组 DNA。然后,我们使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对 rs2713604 进行基因分型,并对数据进行了统计学分析。在调整了高脂血症、高血压和 2 型糖尿病之后,多元回归分析的结果表明 rs2713604 与早发性 MI 之间没有显著关联。有趣的是,rs2713604 的风险等位基因(A 等位基因)在对照组中的频率略高于病例组。