MEF2A基因单核苷酸多态性与冠心病相关性研究

Association of the single nucleotide polymorphisms of MEF2A with coronary artery disease in Chinese Han population

目的:探讨MEF2A基因单核苷酸多态性与冠状动脉粥样硬化性心脏病(coronary artery disease,CAD)的相关性研究。方法:用聚合酶链反应结合核苷酸测序技术分析90例经冠脉造影检查确诊的CAD患者及130例健康体检正常对照者的MEF2A基因rs325400和rs34851361 SNP多态性位点基因型的分布情况,比较组间基因型、等位基因频率的分布差异及其与CAD发生的关系。结果:rs325400多态性位点的基因型和等位基因频率分布在CAD组和对照组比较有统计学差异(P<0.05),符合Hard-Wenberg平衡,其结果具有群体代表性。多态性位点rs34851361在两组均只发现AA基因型,不符合Hard-Wenberg平衡,其结果不具备群体代表性。结论:MEF2A基因单核苷酸多态性rs325400可能与CAD发生有关系,携带A等位基因的人群患CAD的风险性可能较正常人高。

Objective：To investigate the association of single nucleotide polymorphism（SNP rs325400 and rs34851361）of MEF2 A gene on chromosome 15q26 with coronary artery disease（CAD）. Methods：A case-control association study of 90 unrelated CAD patients and 130 normal controls from a Chinese Han population was performed. Genotype and allele were determined by polymerase chain reaction（PCR）and nucleotide sequencing for SNP rs325400 and rs34851361 in MEF2 A gene. Results：The frequencies of the genotype and alleles of rs325400 in MEF2 A had statistical significance between two groups（P〈0.05）,but there was only the AA in both groups of rs34851361. Conclusion：The present findings suggest that the genetic polymorphism in rs325400 may be associated with the development of the CAD in Chinese Han population and the attack rate of the CAD in the crowd with allele A may be higher.