A study of the role of the myocyte-specific enhancer factor-2A gene in coronary artery disease
A study of the role of the myocyte-specific enhancer factor-2A gene in coronary artery disease
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DOI：
10.1016/j.atherosclerosis.2009.09.005
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发表时间：
2010-03-01
期刊：
影响因子：
5.3
通讯作者：
Dzimiri, Nduna
中科院分区：
文献类型：
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作者：
Elhawari, Samar;Al-Boudari, Olyan;Dzimiri, Nduna
我们在1186名有冠状动脉造影术记录的疾病患者中评估了MEF2A作为冠状动脉疾病(CAD)危险因素的作用，并与沙特人群中885名无CAD的人进行了比较。对该基因进行分析发现，外显子11是所有编码区中最多态的，在包含11个CAG三核苷酸链和CCGCCGCCA序列的基因座上存在几个替换多态和插入/缺失(INDel)，这导致了nt146637和nt146647、nt146780或nt146783处的移码和提前终止密码子。虽然这些指标与冠心病无明显关联，但rs1059759G>；C[1.21(1.02-1.43)；p=0.029]和rs34851361A>；G[1.22(0.9-1.54)；p=0.088]存在因果关系。重要的是，由所研究的SNP构建的单倍型1A-2G-3G-4A-5C-6G-7G-8A也与冠心病相关[6.39(0.93-43.75)；p=0.0052]。这些结果表明MEF2A基因是冠心病的易感基因。(C)2009爱思唯尔爱尔兰有限公司。保留所有权利。
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. (C) 2009 Elsevier Ireland Ltd. All rights reserved.