我国汉族人群MEF2A基因多态性位点的检测及其与冠状动脉粥样硬化性心脏病相关性的研究  

Association of genetic polymorphisms in the coding regions of myocyte enhancer factor-2A gene with risk of coronary artery disease in Chinese Han population

作　　者：肖尧[1] 何青[2] 戴大鹏[1] 周晓阳[1] 张志欣[3] 季福绥[2] 孙福成[2] 许锋[2] 钱贻简[2] 蔡剑平[1] 

机构地区：[1]北京医院卫生部临床检验中心,100730 [2]北京医院心内科 [3]北京市血液中心

出　　处：《中华检验医学杂志》2006年第11期975-979,共5页Chinese Journal of Laboratory Medicine

基　　金：中央保健专项资金资助项目(0302);卫生部北京医院重点课题资助项目(2005001)

摘　　要：目的检测我国汉族人群中MEF2A基因存在的多态性位点，调查这些多态性位点与冠状动脉粥样硬化性心脏病发生的相关性。方法用单链构象多态性和（或）聚合酶链反应产物直接测序法对257例冠状动脉粥样硬化性心脏病阳性病例、157例冠状动脉粥样硬化性心脏病阴性对照及242名健康体检者MEF2A基因的编码区和5′非翻译区进行全基因扫描、发现多态性位点，明确多态性各位点的等位基因频率和基因型频率，研究不同基因型与冠状动脉粥样硬化性心脏病发生的相关性。结果在MEF2A基因的编码区中共筛查到4处基因多态性位点，其中3处为单核苷酸多态性位点（891C／T，1305G／A，1353G／T），1处为三联核苷酸缺失多态性位点（1294～1296CCG／-）。经病例一对照研究显示，891C／T位点TT基因型频率在病例组和对照组分别为8．2％和3．9％，经统计学检验差异无统计学意义（P=0．088）。其余3个位点的等位基因频率和基因型频率在病例组和对照组之间分布相近，差异无统计学意义（P〉0．05）。结论MEF2A基因的4个多态性位点（891C／T，1305G／A，1353G／T，1294-1296CCG／-）与我国汉族人群中冠状动脉粥样硬化性心脏病的发生无显著相关性。Objective To investigate the nucleotide variants of myocyte enhancer factor-2A gene distribution in Chinese Han population and their possible association with coronary artery disease （CAD）. Methods All coding regions and 5＇-untranslated region of the MEF2A gene in 257 CAD positive cases, 157 CAD negative controls and 242 healthy population were all screened by PCR-SSCP or direct sequencing. Then we found polymorphisms out and investigated their allele frequencies and genotype frequencies. Results In this study, we identified three single nucleotide polymorphisms （SNPs） and one 3 bp deletion polymorphism in exon 9 and exon 11, They were 891C/T, 1 305G/A, 1 353G/T, 1 294 - 1 296CCG/-. Case-control study showed that the genotype frequency of 891TY were 8. 2% in CAD cases and 3.9% in CAD control respectively but no significant difference between them （ P = 0. 088 ）. As to the other three polymorphisms, the allele frequencies and genotype frequencies were similar in case and control, and none of these nucleotide variations was significantly associated with CAD disease （ P 〉 0. 05 ）. Conclusion There is no association between CAD and the four nucleotide polymorphisms, 891C/T, 1 305G/A, 1 353G/T and 1 294 - 1 296CCG/- in Chinese Han population in our present study.

关 键 词：冠状动脉疾病 肌细胞增强因子2A 基因 

分 类 号：R541.4[医药卫生—心血管疾病]