• Is there any association between the MEF2A gene changes and Coronary Artery Disease?
  • Niloofar Naderi,1 Maryam Hosseini Moghadam,2 Majid Maleki,3 Samira Kalayinia,4,*
    1. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
    2. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
    3. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
    4. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran


  • Introduction: Introduction: Coronary artery disease (CAD) is a common multifactorial disease with a high rate of morbidity and mortality worldwide. The MEF2A gene transcription factor belongs to the myocyte enhancer factor-2 (MEF2) family and is involved in critical processes such as calcium-dependent signaling pathways and cardiac development. Although the variants of the MEF2A gene were studied in different CAD and myocardial infraction (MI) populations, the reality of this gene association with CAD is still unclear. This study reports the first in silico investigation on MEF2A variants.
  • Methods: Methods: All reported variants in CAD/MI patients were collected from eleven countries. Their pathogenicity and variants position conservation were surveyed by online prediction tools including Mutation-Taster, Polyphen-2, PROVEAN, SIFT, CADD, and GERP.
  • Results: Results: In silico analysis did not confirm the pathogenic effect of 21-bp deletion which was introduced as a monogenic cause of CAD. c.704C>A (p.S235Y), c.812C>G (p.P271R), c.836C>T (p.P279L) and c.848G>A (p.G283D) missenses, c.1315C>T (p.R439X) nonsense, and seven out-of-frame deletions were predicted as disease-causing variants.
  • Conclusion: Conclusion: Although some variants of the MEF2A gene affect protein structure, the MEF2A variation studies in CAD/MI patients and in silico analyses do not approve the association and pathogenicity of MEF2A variants in the familial/sporadic CAD.
  • Keywords: Coronary Artery Disease; MEF2A; in silico analysis