Dataset Information
The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction.
Ontology highlight
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.
SUBMITTER: Gonzalez P
PROVIDER: S-EPMC2564638 | biostudies-literature | 2006 Feb
REPOSITORIES: biostudies-literature
Publications
The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction.
Journal of medical genetics 20050615 2
<h4>Background</h4>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.<h4>Objective</h4>To analyse the genetic variation of exons 7 and 11 in a large cohort of Spanish CAD ...[more]