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Variants in MEF2A gene in relation with coronary artery disease in Saudi population

机译:沙特人群MEF2A基因变异与冠心病的关系

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摘要

This study investigated the association of variants in myocyte enhancer factor 2A (MEF2A) gene with coronary artery disease (CAD) via case control study on Saudi population. Several studies have indicated a high expression of MEF2A in the human coronary endothelium. The entire (exon 11 putative susceptibility exon) of MEF2A gene was sequenced using direct DNA sequencing method in 120 sporadic patients and 100 controls. Total number of variants were identified and crude odds ratio (OR) with 95% confidence interval (CI) was calculated. In total, three variants were identified, namely, CAG repeats, AGC deletion, and SNP rs: 325400. No significant link was observed between the common (CAG)n polymorphism, AGC deletion, and CAD risk as reported in other populations, but interestingly, rs325400 (G1323T) in Saudis was found to be associated with the CAD with odds ratio 2.0102 (CI = 1.3405–3.0146) and significance of p = 0.00048. None of Saudi subjects (normal as well as diseased) showed 21-bp deletion as reported previously for other populations. In addition, genotype TT of rs325400 is associated with significantly higher levels of LDL-C and lower level of HDL-C. Among the quantitative parameters, lower HDL-C and higher LDL-C was found to be associated with disease. We report that MEF2A gene based on SNP rs325400 (G1323T) can be considered as a susceptibility factor for CAD and presence of T allele makes Saudis at more risk to CAD, while other variants detected in this gene do not have any association in Saudi population.
机译:本研究通过病例对照研究,研究了肌细胞增强因子2A(MEF2A)基因变异与冠心病(CAD)的关联。多项研究表明,MEF2A在人冠状动脉内皮中高表达。使用直接DNA测序方法对120例散发患者和100例对照患者的MEF2A基因的整个序列(第11外显子敏感性外显子)进行了测序。确定变体的总数,并计算具有95%置信区间(CI)的原始比值比(OR)。总共鉴定出三个变异,即CAG重复,AGC缺失和SNP rs:325400。在其他人群中,常见的(CAG)n多态性,AGC缺失和CAD风险之间未发现显着关联,但有趣的是,在沙特阿拉伯发现rs325400(G1323T)与CAD相关,比值比为2.0102(CI = 1.3405–3.0146),p = 0.00048。沙特阿拉伯受试者(正常人和患病者)均未显示出21bp的缺失,如先前其他人群所报道。此外,rs325400的基因型TT与LDL-C的显着较高水平和HDL-C的较低水平相关。在定量参数中,发现较低的HDL-C和较高的LDL-C与疾病有关。我们报告说,基于SNP rs325400(G1323T)的MEF2A基因可被视为CAD的易感因素,T等位基因的存在使沙特人患CAD的风险更高,而在该基因中检测到的其他变异在沙特人群中没有任何关联。

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