Abstract
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.