男性早发性冠心病与血管紧张素原基因启动子区域-217G/A和-152G/A多态

-217G/A and -152G/A polymorphisms in angiotensinogen gene promoter and their relationship with male early onset coronary artery disease

目的:研究血管紧张素原(angiotensinogen,AGT)基因启动子区域的-217G/A和-152G/A多态与上海地区汉族男性早发性冠心病(CAD)的相关性。方法:采用多重SNaPshot反应,在100例男性早发性CAD患者和100名健康男性对照者中,对AGT基因启动子区域的-217G/A和-152G/A多态进行基因分型。结果:-217G/A多态AA、AG和GG基因型在CAD组中的分布与对照组相比有显著性差异(P=0.039),CAD组的A等位基因频率较对照组亦显著增加(P=0.012),A等位基因携带者早发性CAD的发病危险是非携带者的1.913倍(95%CI1.151～3.182)。-152G/A多态的基因型分布在2组间的差异无统计学意义(P=0.154),其A、G等位基因频率2组相比有差异(P=0.044)。在多支病变组中,-217G/A多态的基因型分布及其等位基因频率2组相比均有显著性差异(分别为P=0.010和P=0.005),且A等位基因携带者发生多支病变的危险是非携带者的2.307倍(95%CI1.274～4.179)。结论:在上海地区的汉族男性人群中,AGT基因-217G/A和-152G/A多态可能是其早发性CAD的遗传性危险因素,且-217G/A多态可能还与冠状动脉粥样硬化的病变程度相关。

Objective To determine the -217G/A and -152G/A polymorphisms in the promoter region of angiotensinogen（AGT） gene, and their relationship with Han male early on-set coronary artery disease（CAD） in Shanghai region. Methods The genotypes of -217G/A and -152G/A polymorphisms in 100 male early on-set CAD patients and 100 healthy male as control group were analysed by SNaPshot Multiplex Kit. Results The genotype distribution of -217G/A polymorphism was obviously different between the CAD group （AA=7,AG=35,GG=58） and the control group （AA=4,AG=21, GG=75,P=0.039）. CAD patients demonstrated a significantly increased A allele frequency than healthy controls （24.50% vs 14.50%, P=0.012）, the relative risk of early on-set CAD in population with A allele was 1.913 （95%CI 1.151-3.182）. Yet, no significant difference in the genotype distribution of -152G/A polymorphism was observed between these two groups （P=- 0.154）. Frequencies of A and G alleles were different between CAD and control populations （5.00% vs 3.00%; 95.00% vs 97.00%, P=-0.044）. Similarly, the genotype distribution and alleles frequency of -217G/A polymorphism were obviously different between group of double-vessel disease （DVD）, triple-vessel disease （TVD） and control group （P=0.010, P=0.005）. The relative risk of multi-vessel CAD in men with A allele was 2.307 （95% CI 1.274-4.179）. Conclusions -217G/A and -152G/A polymorphisms of AGT gene might be served as genetic risk factors for early on-set CAD in Han male population in Shanghai region. Furthermore, -217G/A polymorphism is closely related with the extent of coronary atherosclerosis.