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目的:检测冠心病患者及健康对照者ATP结合盒转运子A1(ABCA1)R219K基因多态性,探讨其与中国人冠心病以及血脂水平的关系。方法:选择234例冠心病患者(冠心病组)和198例正常对照者(对照组)为研究对象,用聚合酶链式反应-限制性片段长度多态性方法研究R219K基因多态性与冠心病和血脂水平的关系。结果:与对照组比较,冠心病组RR基因型频率(46·2%)明显高于对照组(33·8%)(P<0·05),而KK型频率(8·9%)显著低于对照组(15·2%)(P<0·05);与RR型患者相比,KK基因型患者血浆高密度脂蛋白(HDL)水平较高。基因型与血脂水平Logistic回归分析结果表明,三酰甘油、HDL、载脂蛋白A1与基因型相关。结论:ABCA1基因R219K变异可能具有动脉硬化保护作用。
Objective: To detect the R219K polymorphism of ATP-binding cassette transporter A1 (ABCA1) in patients with coronary heart disease and healthy controls, and to explore its relationship with coronary heart disease and blood lipid levels in Chinese. Methods: A total of 234 patients with coronary heart disease (CHD) and 198 normal controls (control group) were selected as study subjects. The polymorphisms of R219K gene and the coronary arteries were detected by polymerase chain reaction-restriction fragment length polymorphism Heart disease and blood lipid levels. Results: Compared with the control group, the frequency of RR genotype (46.2%) in CHD group was significantly higher than that in control group (33.8%) (P <0.05), while KK frequency (8.9%) was significantly (15.2%) (P <0.05). Patients with KK genotype had higher plasma high density lipoprotein (HDL) level than those with RR genotype. Logistic regression analysis showed that triglyceride, HDL and apolipoprotein A1 were associated with genotypes. Conclusion: The R219K mutation of ABCA1 gene may have the protective effect of atherosclerosis.