Lack of association between the MEF2A gene and myocardial infarction

Circulation. 2008 Jan 15;117(2):185-91. doi: 10.1161/CIRCULATIONAHA.107.728485. Epub 2007 Dec 17.


Background: Coronary artery disease (CAD) and myocardial infarction (MI) are caused in part by genetic factors. Recently, the MEF2A gene was linked to MI/CAD in a single pedigree with autosomal-dominant pattern of inheritance. In addition, genetic variants within the gene have been associated with MI in case-control settings, producing inconsistent results.

Methods and results: The MEF2A gene was sequenced in MI patients from 23 MI families (> or =5 affected members per family), but no mutation was identified in any of these extended families. Moreover, the Pro279Leu variant in exon 7 was analyzed in 1181 unrelated MI patients with a positive family history for MI/CAD, in 533 patients with sporadic MI, and in 2 control populations (n=1021 and n=1055), showing no evidence for association with MI/CAD. In addition, a (CAG)n repeat in exon 11 was genotyped in 543 sporadic MI patients and in 1190 controls without evidence for association with MI. Finally, analyzing 11 single-nucleotide polymorphisms from the GeneChip Mapping 500K Array, genotyped in 1644 controls and 753 cases, failed to provide evidence for association (region-wide P=0.23).

Conclusions: Studying independent samples of >1700 MI patients, 2 large control populations, and multiple families with apparently mendelian inheritance of the disease, we found no evidence for any linkage or association signal in the MEF2A gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • DNA Mutational Analysis
  • Family Health
  • Humans
  • Inheritance Patterns
  • MADS Domain Proteins / genetics*
  • MEF2 Transcription Factors
  • Myocardial Infarction / epidemiology
  • Myocardial Infarction / etiology
  • Myocardial Infarction / genetics*
  • Myogenic Regulatory Factors / genetics*
  • Polymorphism, Genetic*


  • MADS Domain Proteins
  • MEF2 Transcription Factors
  • MEF2A protein, human
  • Myogenic Regulatory Factors