粤北地区早发冠心病与MEF2A基因11外显子的关系

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。

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

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 (P<0.05). 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 (P<0.01). CONCLUSION: CAG repeat polymorphism in exon 11 of MEF2A gene is not a risk factor for premature CAD in Yuebei area.