基质金属蛋白酶1基因-519A/G多态性与冠心病发病的关系

目的 研究中国北方汉族人群中基质金属蛋白酶1(MMP1)基因-519A/G单核苷酸多态性与冠心病发病的关系.方法 采用聚合酶链反应一限制性片段长度多态性技术结合琼脂糖凝胶电泳和基因测序等方法,检测经冠状动脉造影证实的517例冠心病患者和380例健康对照者MMP1-基因-519A/G多态性位点的基因型和等位基因分布,分析两组人群MMP1基因型和等位基因型频率的差异.结果 中国北方汉族人群中存在MMP1基因-519A/G单核苷酸多态性.MMP1基因-519A/G单核苷酸多态的AA基因型在冠心病组和对照组间的分布差异有统计学意义[67.70%(350/517)比40.26%(153/380),OR=1.64,P＜0.001,95%CI:1.44～1.86],A等位基因携带者冠心病发病的相对危险度为1.49(P＜0.001,95%CI:1.33～1.69).亚组分析显示,AA基因型在急性冠状动脉综合征(ACS)组和稳定性心绞痛组间的分布差异有统计学意义[68.81%(278/404)比51.76%(44/85),P＜0.01,95%CI:1.04～1.27].A等位基因携带者发生ACS的相对危险度为1.11(P＜0.05,95%CI:1.01～1.21).不稳定性心绞痛组与急性心肌梗死组比较,AA基因型和A等位基因的分布差异无统计学意义.结论 中国北方汉族人群中存在MMP1基因-519A/G单核苷酸多态性.MMP1基因-519A/G单核苷酸多态性与冠心病的发病相关,A等位基因携带者发生ACS的危险性增加.

Matrix metalloproteinase-1 gene-519A/G polymorphism and the risk of coronary heart disease in Northern Chinese Han population

Objective To investigate the relationship between matrix metalloproteinase(MMP)1 gene-519A/G polymorphism and the risk of coronary heart disease(CHD)in Northern Chinese Han population.Methods A total of 517 patients with CHD and 380 healthy adults diagnosed by coronary angiography were genotyped by polymerase chain reaction-restriction fragment length polymorphism and DNA sequence technology for the-519A/G polymorphism in MMP1 gene.Results (1)The frequency of AA genotype was significantly higher in patients with CHD than that in controls[67.70%(350/517) vs.40.26%(153/380),OR=1.64,P＜0.001,95%CI:1.44-1.86].People carrying A allele had increased risk for CHD(OR=1.49,P＜0.001,95% CI:1.33-1.69).(2)The frequency of AA genotype was higher in patients with acute coronary syndrome(ACS)than patients with stable angina pectoris[68.81%(278/404)vs.51.76%(44/85,),P＜0.01,95% CI:1.04-1.27].The A allele carriers were more likely to develop ACS(OR=1.11,95% CI:1.01-1.21,P＜0.05).Conclusion Our data shows MMP1 gene -519A/G polymorphism is associated with the risk of CHD,and A allele carriers are more susceptible for CHD in Northern Chinese Han population.