Association of MEF2A gene 3'UTR mutations with coronary artery disease

Association of variants in the myocyte enhancer factor 2A (MEF2A) gene and the risk of coronary artery disease (CAD) has drawn much attention but remains controversial. We hypothesized that the 3'-untranslated region (3'-UTR) of this gene could harbor functionally relevant nucleotide changes. Here, we assessed the association between single nucleotide polymorphisms (SNPs) in the 3'-UTR of MEF2A and CAD in the Chinese Han population. A case-control study of 236 CAD patients and 278 controls was carried out. The four target SNPs were genotyped using a multiplex PCR-ligase detection reaction method. Logistic regression under three genetic models was used to analyze the association between target SNPs and the risk of CAD. Associations were detected between two SNPs (rs325380, rs897074) and CAD; however, after Bonferroni's correction, these associations were not deemed significant. A further haplotype study indicated that a 'TA' haplotype carrier of rs325380-rs325381 was associated with CAD risk. Our study thus indicates that variants in the 3'-UTR of MEF2A are associated with CAD in a Chinese Han population.