Blog
About

8
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

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

      Journal of Medical Genetics

      genetics, Alleles, Case-Control Studies, Exons, Genetic Predisposition to Disease, Genotype, Humans, Leucine, MADS Domain Proteins, MEF2 Transcription Factors, Male, Middle Aged, Mutation, Myocardial Infarction, Myogenic Regulatory Factors, Polymorphism, Single Nucleotide, Polymorphism, Single-Stranded Conformational, Proline

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

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

          Related collections

          Author and article information

          Journal
          10.1136/jmg.2005.035071
          2564638
          15958500

          Comments

          Comment on this article