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

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 c

SUBMITTER: Gonzalez P 

PROVIDER: S-EPMC2564638 | biostudies-literature | 2006 Feb

REPOSITORIES: biostudies-literature