粤北地区早发冠心病与MEF2A基因11外显子的关系

Relationship between exon 11 of MEF2A gene and premature coronary artery disease in Yuebei area

目的:探讨广东粤北地区人群中肌细胞增强因子(MEF)2A基因第11外显子基因多态性与早发冠心病的关联性。方法:应用聚合酶链反应-单链构象多态性和DNA测序技术检测210例散发冠心病患者及180例对照者MEF2A基因第11外显子基因多态性,并研究它与冠心病的关系。结果:冠心病常见的危险因素,如高血压病、糖尿病、吸烟,在冠心病组分布的频率明显高于对照组(P<0.05),MEF2A基因11号外显子存在CAG重复序列多态性,重复序列4～11个不等,各等位基因的分布在冠心病组和对照组无明显差异,未发现21个碱基缺失的基因突变。采用Logistic回归方程分析,只有糖尿病是冠心病发病的独立危险因素(P<0.01)。结论:MEF2A基因第11外显子CAG重复序列基因多态性不是粤北地区早发冠心病的危险因素。

AIM：To investigate the association between the polymorphism in exon 11 of MEF2A and premature coronary artery disease（CAD） in the Yuebei area of Guangdong.METHODS： The variation analysis of exon 11 of MEF2A gene was performed using polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP） and DNA direct sequencing in 210 sporadic patients with CAD and 180 controls without CAD and its correlation with CAD was analyzed.RESULTS： Frequencies of the classical risk factors for CAD such as hypertension,diabetes and smoking were higher in patients than in controls（P0.05）.CAG repeat polymorphism was detected in exon 11 of MEF2A gene and the number of CAG repeats ranged from 4 to 11,with no significant difference in the distribution of CAG alleles between patients with CAD and controls.No 21-bp deletion was detected in any subject of the study population.Logistic regression analysis revealed that only diabetes was an independent risk factor for CAD（P0.01）.CONCLUSION： CAG repeat polymorphism in exon 11 of MEF2A gene is not a risk factor for premature CAD in Yuebei area.