ACE基因单核苷酸多态性与冠心病易感性的关联性分析

目的: 探讨中国北方汉族人群血管紧张素转化酶(ACE)基因单核苷酸多态性(SNPs)与冠心病遗传易感性的关系,阐明ACE基因是否为冠心病的易感基因。方法: 采用病例对照的研究方法,选择246例冠状动脉造影证实的冠心病患者为病例组;以同期进行健康体检的正常人为对照组,共251名。利用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,检测ACE基因上rs4267385和rs4316位点的多态性。采用 SPSS17.0 软件进行统计学处理,分析ACE基因多态性与冠心病的关联性。结果: 病例组和对照组人群的2个SNPs(rs4267385和rs4316)位点基因型频数分布均符合Hardy-Weinberg平衡定律(P>0.05);病例组和对照组rs4267385位点等位基因和基因型频数分布比较差异有统计学意义(P<0.05),rs4316位点等位基因和基因型频数分布差异无统计学意义(P>0.05)。结论: ACE基因可能是中国北方汉族人群冠心病的易感基因。

Analysis on association between single nucleotide polymorphisms of ACE gene and susceptibility of coronary heart disease

Objective To explore the association between single nucleotide polymorphisms(SNPs) of angiotensin converting enzyme (ACE) and susceptibility of coronary heart disease in Han population from North China,and to clarify whether ACE gene is the susceptible gene of coronary heart disease. Methods Using case-control study,246 patients with coronary heart disease confirmed with coronary angiography were used as case group,and 251 health persons were selected as control group.PCR-RFLP was applied to detect the SNPs of rs4267385 and rs4316 in ACE gene. Statistical software SPSS17.0 was used to analyze the assiation between ACE gene polymorphisms and coronary heart disease. Results The genotype distributions of the two SNPs(rs4267385,rs4316) didn't deviate from Hardy-Weinberg equilibrium in both case and control groups(P> 0.05); the allelic and genotypic frequency distributions of rs4267385 in ACE gene showed significant differences betwwen case and control groups(P<0.05),and the allelic and genotypic frequency distributions of rs4316 in ACE gene showed no significant differences betwwen case and control groups(P> 0.05). Conclusion ACE gene is likely to be the susceptible gene of coronary heart disease in Han population from North China.