冠心病患者血管紧张素Ⅰ转换酶基因多态性分析

Analysis of single nucleotide polymorphism of angiotensin Ⅰ-converting enzyme gene in patients with coronary artery disease

目的探讨血管紧张素Ⅰ转换酶(ACE)基因的单核苷酸多态性(SNP)与冠心病(CAD)的相关性。方法提取192例CAD患者和189例健康对照者外周血白细胞DNA,应用荧光标记单碱基延伸技术及杂交技术检测ACE基因的2个标签SNP rs4353和rs4305。结果 CAD组rs4353的GG基因型和rs4305的AA基因型频率明显高于健康对照组(P<0.05)。2个SNP的等位基因频率在两组间无统计学差异(P>0.05)。通过对rs4353和rs4305进行单倍型分析发现,CAD组和健康对照组的AG单倍型频率具有统计学差异(P<0.05)。结论 ACE基因rs4353和rs4305多态性变异及其构建的AG单倍型是CAD的遗传危险因素。

Objective To investigate the correlation between the single nucleotide polymorphism（SNP）of angiotensin Ⅰ-converting enzyme（ACE）gene and coronary artery disease（CAD）.Methods DNA samples of peripheral blood white cells were extracted from 192 patients with CAD and 189 healthy individuals.The two tagging SNPs of ACE gene,rs4353 and rs4305,were analyzed by allele-specific fluorogenic oligonucleotide probes combining with PCR and hybridization.Results In CAD group,the GG genotype frequency of rs4353 and AA genotype frequency of rs4305 were obviously higher than that of control group（P0.05）.The alleles frequency of the 2 SNPs was not significantly different between both groups（P0.05）.After the haplotypes of rs4353 and rs4305 were constructed by using PHASE2.1 software,it showed that the frequency of AG haplotypes was significantly different between the two groups（P0.05）.Conclusion rs4353 and rs4305 mutations in ACE gene as well as the AG haplotypes constructed by these two SNPs might be genetic risk factors of CAD.