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The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction
  1. P González1,
  2. M García-Castro1,
  3. J R Reguero2,
  4. A Batalla3,
  5. A G Ordóñez4,
  6. R L Palop5,
  7. I Lozano2,
  8. M Montes5,
  9. V Álvarez1,
  10. E Coto1
  1. 1Laboratorio de Genética Molecular-Instituto de Investigación Nefrológica, Hospital Universitario Central de Asturias, Oviedo, Spain
  2. 2Servicio de Cardiología, Hospital Universitario Central de Asturias, Oviedo
  3. 3Servicio de Cardiología, Hospital de Cabueñes, Gijón, Spain
  4. 4Servicio de Hematología, Hospital de San Agustín, Aviles, Spain
  5. 5Servicios de Cardiología y de Imnunología, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
  1. Correspondence to:
 Dr Eliecer Coto
 Laboratorio de Genética Molecular, Hospital Universitario Central de Asturias, 33006 Oviedo, SPAIN; eliecer.coto{at}


Background: A myocyte enhancer factor 2A (MEF2A) mutation that segregated with coronary artery disease/myocardial infarction (CAD/MI) in a large family has recently been described. Missense mutations in sporadic coronary artery disease patients were also reported. These data suggest that mutations in exons 7 and 11 of MEF2A cause CAD/MI, though the association was refuted by another study.

Objective: To analyse the genetic variation of exons 7 and 11 in a large cohort of Spanish CAD/MI patients and controls.

Methods and results: A rare polymorphism, P279L, was detected both in patients and controls. Carriers of the 279Leu allele had a threefold risk of suffering CAD/MI compared with controls (p = 0.009; odds ratio = 3.06 (95% confidence interval, 1.17 to 8.06)). In the controls the allele was found only in those under 50 years of age. Exon 11 showed a high degree of heterogeneity caused by a polyglutamine (CAG)n polymorphism, but no significant differences in genotype or allelic frequencies were found.

Conclusions: The 279Leu allele appears to be a genetic risk factor for CAD/MI in the population studied. This effect could be the result of a reduced transcriptional activity on MEF2A with 279Leu.

  • CAD/MI, coronary artery disease/myocardial infarction
  • MEF2A, myocyte enhancer factor 2A
  • SSCA, single strand conformation analysis
  • myocardial infarction
  • risk factors
  • gene
  • MEF2A

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  • Conflicts of interest: none declared