ABCG1基因两个单核苷酸多态位点与冠状动脉粥样硬化性心脏病易感性及病情严重程度的相关性分析

目的 应用基于群体的病例-对照关联研究方法探讨ABCG1基因上的遗传多态性与冠状动脉粥样硬化性心脏病(简称冠心病)及病情严重程度的相关性.方法 在山东汉族人群中收集541例冠心病患者和649名正常对照,采用聚合酶链反应-限制性片段长度多态方法对ABCG1基因内两个单核甘酸多态位点进行基因分型,统计学分析.结果 rs225374等位基因C在病例组中的频率显著高于对照组(OR=1.186,95%CI:1.009～1.394,P=O.039),在男性病例组与对照组中的差异同样具有统计学意义(OR=1.236,95%CI:1.014～1.506,P=O.036).rs1044317等位基因A在病例组中的频率显著高于对照组(OR=1.187,95%CI:1.009～1.397,P=0.039).单独在病例组内的分析结果显示,rs225374等位基因C频率在高Gensini积分组中显著高于低Gensini积分组(OR=1.303,95%CI:1.024～1.657,P=O.031).结论 ABCG1基因上两个单核苷酸多态位点与冠心病易感性及病情严重程度具有一定相关性.

Association of the ABCG1 gene polymorphism with the susceptibility and severity of coronary atherosclerotic disease

Objective To investigate the association of the ATP-binding cassette sub-family G member 1 (ABCG1)gene polymorphisms with coronary atherosclerotic disease (CAD) in Chinese Han population. Methods A population based case-control association study was carried out in 541 patients with CAD and 649 healthy controls from Chinese Han population. Two single nucleotide polymorphisms (SNPs) of the ABCG1 gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism. Logistic regression was used to compare the genotypic and allelic frequency difference.Results The frequency of allele C of rs225374 was significantly higher in the CAD patients than that in the healthy controls (OR= 1. 186, 95 %CI: 1. 009-1. 394, P=0. 039), while the difference was also significant in the male subgroup (OR= 1. 236, 95 %CI: 1. 014-1. 506, P = 0. 036). A statistically higher frequency of rs1044317 allele A was found in the CAD patients in comparison to the healthy controls (OR= 1. 187, 95%CI: 1. 009-1. 397, P=0.039). In case-only association study, rs225374 showed significant association in the high Gensini score group compared with the low Gensini score group (OR= 1. 303, 95%CI: 1. 024-1. 657,P=0. 031). Conclusion The two SNPs of the ABCG1 gene might be associated with the susceptibility and severity of CAD in Chinese Han population.