RT Journal Article
SR Electronic
T1 The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 167
OP 169
DO 10.1136/jmg.2005.035071
VO 43
IS 2
A1 P González
A1 M García-Castro
A1 J R Reguero
A1 A Batalla
A1 A G Ordóñez
A1 R L Palop
A1 I Lozano
A1 M Montes
A1 V Álvarez
A1 E Coto
YR 2006
UL http://jmg.bmj.com/content/43/2/167.abstract
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.