Association of Mef2a gene polymorphisms in early onset of coronary artery disease of south Indian cohort

Myocyte enhancer factor-2A (MEF2A), encoding a member of the MEF2 family of transcription factors, has been identified for primary CAD and MI without other accompanying clinical feature. It plays a role in vascular ontogeny and shows its predominant expression in the coronary artery endothelium. In the present study, we sought to evaluate the possible role of Mef2A polymorphisms as a risk determinant of CAD.A total of 300 angiographically documented cases and 300 healthy controls were recruited for the study. Polymorphisms of Mef2A 279 C > T in exon 8 and 452 G > T, 481 A > G in exon 11 were determined by PCR-RFLP method. The Mef2a 279 C > T variation and 452 G > T was found to be significantly associated with CAD (p < 0.001 & p < 0.001). The 'CT' and 'TT' genotype was found to be predominant in CAD with two & single fold increased risk to CAD and the association being statistically significant. However we did not find significant association of 481 A > G polymorphism with CAD in addition haplotype analysis revealed that T-G-A and C-T-A haplotype was found to be about three & single fold higher in CAD than controls with the association being statistically significant (p < 0.0001) & (p < 0.04) conferring risk towards CAD. Further MLR analysis revealed that Family History, Diet, Alcoholism, LDL and Triglycerides Levels were associated independently with CAD (p < 0.01) Since Mef2a is highly expressed in endothelium the mutation in this gene would reduce the activation activity of MEF2A. Here we found significantly a greater frequency of 279Leu and 452 Gly among patients with myocardial infarction and this allele could be a genetic risk factor for myocardial infarction in our population.