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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 association between single nucleotide polymorphism (SNP) of angiotensin Ⅰ converting enzyme (ACE) gene and coronary heart disease (CAD). Methods Peripheral blood leukocyte DNA was extracted from 192 patients with CAD and 189 healthy controls. The two SNPs rs4353 and rs4305 of ACE gene were detected by fluorescently labeled single base extension and hybridization. Results The frequencies of GG genotype and rs4305 AA genotype of rs4353 in CAD group were significantly higher than those in healthy controls (P <0.05). There was no significant difference in allele frequency between the two SNPs (P> 0.05). Haplotype analysis of rs4353 and rs4305 showed that AG haplotype frequency was significantly different between CAD group and healthy control group (P <0.05). Conclusion The polymorphisms of rs4353 and rs4305 in ACE gene and the AG haplotypes are the genetic risk factors of CAD.