肌细胞增强因子2A基因P279L变异与冠心病的关系

Association of MEF2A-P279L single nucleotide polymorphism(SNP)with CHD

目的:探讨肌细胞增强因子2A基因P279L变异是否与冠心病相关。方法:选择西北地区汉族人385例,采用酚氯法提取全基因组DNA,应用聚合酶链式反应、限制性内切酶反应体系结合测序的方法检测MEF2A基因多态性。结果:冠心病组L、P等位基因的频率分别为16.53%和83.47%;对照组L、P等位基因的频率分别为5.48%和94.52%,MEF2A-P279L基因型在冠心病组和对照组的分布存在显著性的差异(P<0.01),而且L等位基因的分布频率在冠心病组显著高于对照组(P<0.01)。结论:MEF2A-P279L基因型在冠心病组和对照组的分布有显著性差异,与冠状动脉病变的严重程度显著相关,L等位基因的携带者冠心病发病率显著高于非携带者,而且冠脉的病变更为严重。

Objectives：To investigate the relationship between the distribution of Myocyte enhancer factor2A（MEF2A）gene P279 Lpolymorphism and CHD in Han nationality in Chinese North-Western area.Methods：Three hundred and eighty five Han ethnic subjects.DNA was extracted by proteinase K digestion,phenol and chloroform extraction as well as isopropanol precipitation.The polymerase chain reaction（PCR）-restriction fragment length polymorphisms（RFLP）in conjunction with sequencing were employed to test the single nucleotide polymorphisms（SNPs）in Myocyte enhancer factor 2A（MEF2A）.Results：Lallelic frequency was significantly higher that in CHD group than that in control group,CHD group 16.53%,control group 5.48%（P〈0.01）,Lallele was related with more severity of atherosclerosis in the coronary artery than P allele（P〈0.01）.Conclusion：There is significantly statistical difference of distribution frequency and severity of atherosclerosis in the coronary artery of three genotypes of MEF2A-P279 Lpolymorphism in CHD and control group,but also L allele is related with more morbility of CHD and severity of atherosclerosis in the coronary artery.