A study of the role of the myocyte-specific enhancer factor-2A gene in coronary artery disease

作者：Elhawari Samar; Al Boudari Olyan; Muiya Paul; Khalak Hanif; Andres Editha; Al Shahid Maie; Al Dosari Mohammed; Meyer Brian F; Al Mohanna Futwan; Dzimiri Nduna^*

来源：Atherosclerosis, 2010, 209(1): 152-154.

DOI：10.1016/j.atherosclerosis.2009.09.005

• MEF2A
• Gene polymorphism
• CAD
• Haplotype

We evaluated the role of the MEF2A as a risk factor for coronary artery disease (CAD) in 1186 subjects with angiographically documented disease compared with 885 CAD-free individuals in the Saudi population. Screening the gene revealed exon 11 as the most polymorphic of all coding regions, harbouring several substitution polymorphisms and insertion/deletions (indels) at a locus containing an 11 CAG trinucleotide chain and a CCGCCGCCA sequence, which introduced frameshifts and premature stop codons at nt146637 and nt146647, nt146780 or nt146783. While these indels were not significantly associated with CAD, a causative relationship was established for rs1059759 G>C [1.21(1.02-1.43); p = 0.029], and a borderline one for rs34851361 A>G [1.22(0.9-1.54); p = 0.088]. Importantly, a haplotype 1A-2G-3G-4A-5C-6G-7G-8A constructed from the studied SNPs was also associated with CAD [6.39(0.93-43.75); p = 0.0052]. These results identify MEF2A gene as a susceptibility gene for CAD.

• 出版日期2010-3