A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease.
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.
Elhawari
Samar
S
Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Al-Boudari
Olyan
O
Muiya
Paul
P
Khalak
Hanif
H
Andres
Editha
E
Al-Shahid
Maie
M
Al-Dosari
Mohammed
M
Meyer
Brian F
BF
Al-Mohanna
Futwan
F
Dzimiri
Nduna
N
D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D064326:MEF2 Transcription Factors; D008297:Male; D008875:Middle Aged; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia
D018389:Codon, Nonsense; D064326:MEF2 Transcription Factors; D018006:Myogenic Regulatory Factors