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. 2006 Feb;43(2):167-9.
doi: 10.1136/jmg.2005.035071. Epub 2005 Jun 15.

The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction

P González, M García-Castro, J R Reguero, A Batalla, A G Ordóñez, R L Palop, I Lozano, M Montes, V Alvarez, E Coto

The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction

P González et al. J Med Genet. 2006 Feb.

Abstract

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.

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Conflict of interest statement

Conflicts of interest: none declared

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