MEF2A基因第11外显子CAG重复序列多态性与冠心病易感性研究

Relationship between CAG repeat polymorphism in exon 11 of MEF2A gene and susceptibility to coronary artery disease

目的:探讨中国上海地区汉族人群MEF2A基因第11外显子CAG重复序列多态性与其冠心病易感性的关系。方法:对300例冠心病患者(冠心病组)及100名健康体检者(健康对照组)的MEF2A基因第11外显子进行PCR扩增DNA直接测序,以检测CAC重复序列多态性,并结合临床资料进行分析。结果:2组均存在杂合性CAG重复序列,CAG重复序列数为4～11。将短CAG重复序列数(n=4～7)定义为等位基因S;长CAG重复数(n=8～11)定义为等位基因L。健康对照组中等位基因S及基因型SL频率均高于冠心病组,差异有统计学意义(P均<0.05)。结论:MEF2A基因第11外显子CAG重复序列多态性与冠心病易感性相关,等位基因L可能是中国上海地区汉族人群的冠心病易患因素。

Objective To investigate the potential association of CAG repeat polymorphism in exon 11 of MEF2A gene with susceptibility to coronary artery disease in Shanghai Hans in China. Methods Three hundreds patients with coronary artery disease （CAD group） and 100 healthy normal subjects （control group） were enrolled. CAG repeat polymorphism in exon 11 of MEF2A gene was determined by direct sequencing of polymerase chain reaction （PCR） amplified protein, and its correlation with coronary heart disease was analyzed. Results Heterozygous CAG repeat polymorphism was detected in the both groups. The number of CAG repeat ranged from 4 to 11; short CAG repeat （n=4-7） was defined as allele S, long CAG repeat （n=8-11） was defined as allele L, respectively. The frequencies of allele S and genotype SL were higher in controls than those in CAD patients （both P〈0.05）. Conclusions CAG repeat polymorphism in exon 11 of the MEF2A gene is correlated with susceptibility to CAD. Alleles L might be a risk factor of coronary heart disease in Shanghai Hans in China.