蛋白Z启动子A-13G基因多态性与冠心病相关研究

Associations of protein Z promoter A-13G polymorphisms with coronary artery disease

目的探讨蛋白Z启动子A-13G基因多态性在浙江地区汉族人群中的发生率及其与冠状动脉粥样硬化性心脏病(简称冠心病)的关系。方法对冠心病组(至少1支冠脉直径狭窄≥50.00%)157例和对照组129例,采用聚合酶链反应和限制性内切酶片段长度多态性方法结合基因测序技术,检测蛋白Z启动子A-13G基因多态性。结果首次发现浙江地区汉族人群存在蛋白Z启动子A-13G基因多态性,野生型(AA型)、GA型和GG型分别占16.78%、53.85%和29.37%;A、G等位基因频率分别为43.71%和56.29%;冠心病组与对照组间基因型和等位基因频率分布差异均无显著性意义(χ2=1.17、0.32,均P>0.05);冠脉单支、双支和三支病变患者间基因多态性分布差异亦无显著性意义(χ2=1.17,P>0.05),而蛋白Z启动子A-13G基因型在急性冠脉综合征和非急性冠脉综合征患者间的分布差异有显著性意义(P<0.05),AA型冠心病患者患急性冠脉综合征的危险是GG型的3.42倍。结论浙江地区汉族人群存在蛋白Z启动子A-13G基因多态性,蛋白Z启动子A-13G位点A→G突变可能对急性冠脉事件发生有保护作用。

Objective To investigate the distribution of protein Z promoter A-13G polymorphisms in Chinese population and its association with coronary artery disease（CAD）. Methods One hundred and fifty seven patients were underwent selected coronary angiography and patients having more than one major coronary vessel with at least 50% stenosis were defined as CAD. The control group consisted of 129 healthy subjects. Protein Z promoter A-13G polymorphisms were detected by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） ; and parts of PCR products were sequenced. Results The frequency of Protein Z promoter A-13G A and G alleles were 43.71% and 56.29% respectively. The frequencies of two alleles were not significantly different between patients and controls. There was no significant difference in protein Z promoter A-13G genotype distribution among patients with one, two or three stenosed vessels. Significant difference was found among the frequencies of three protein Z promoter A-13G genotypes between acute coronary syndrome （ACS） and non-ACS. The risk of CAD in patients with AA was 3.42 times higher than those with GG. Conclusion Protein Z promoter A-13G polymorphisms are present in Chinese population. The A→mutation of protein Z promoter A-13G may be a protective factor against ACS in Chinese.