Analysis of MEF2A mutations in a Chinese population with premature coronary artery disease

To assess the relationship between mutations of the myocyte enhancer factor 2A (MEF2A) and premature coronary artery disease (PCAD) in a Chinese population.

The mutations in the exons 8 and 12 of the MEF2A gene were analyzed in both PCAD families and sporadic cases using direct sequencing of polymerase chain reaction products. In one PCAD family, seven members of the third generation were all diagnosed with CAD, and five of them had PCAD. All five members with PCAD displayed a mutation of the TT genotype in the site of 1353 G/T. Moreover, three of them (3/5) had a mutation of the DW genotype in the site of 1291-1293 CCG W/D. In sporadic cases, we also found that the haplotype of 1291-1293 CCG D+1305 G+1353 T was significantly associated with PCAD.

The mutations of MEF2A exon 12 are implicated in PCAD, suggesting a strong genetic component in the pathogenesis of PCAD in the Chinese population.