PT  - JOURNAL ARTICLE
AU  - P González
AU  - M García-Castro
AU  - J R Reguero
AU  - A Batalla
AU  - A G Ordóñez
AU  - R L Palop
AU  - I Lozano
AU  - M Montes
AU  - V Álvarez
AU  - E Coto
TI  - The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction
AID  - 10.1136/jmg.2005.035071
DP  - 2006 Feb 01
TA  - Journal of Medical Genetics
PG  - 167--169
VI  - 43
IP  - 2
4099  - http://jmg.bmj.com/content/43/2/167.short
4100  - http://jmg.bmj.com/content/43/2/167.full
SO  - J Med Genet2006 Feb 01; 43
AB  - 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.