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目的探讨ABCA1-G596A基因变异与宁波地区汉族人群冠心病发病的关系。方法入选宁波地区行冠状动脉造影(CAG)检查的汉族人群186例,其中冠心病组111例,非冠心病(对照)组75例。采用苯酚-氯仿-异丙醇抽提外周血白细胞全基因组DNA,通过聚合酶链式反应(PCR)及限制性片段长度多态性(RFLP)结合测序方法确定候选基因ABCA1-G596A单核苷酸多态性(SNPs)。结果宁波地区汉族人群ABCA1-G596A基因型GG、GA及AA分布频率依次为0.34、0.37及0.29。ABCA1-G596A变异基因型GG、GA及AA携带者血浆HDL-c水平呈剂量依赖性升高(P<0.01),甘油三酯水平呈剂量依赖性降低(P<0.05),而对血浆总胆固醇及LDL-c水平无影响。冠心病组与对照组之间ABCA1-G596A变异基因型频率分布无显著性差异(P>0.05)。结论冠心病候选基因ABCA1-G596A变异对血脂代谢产生明显的影响,但与冠心病发病无显著性关联。
Objective To investigate the relationship between ABCA1-G596A gene mutation and the incidence of coronary heart disease in Han nationality in Ningbo. Methods Totally 186 Chinese Han patients enrolled in coronary artery angiography (CAG) in Ningbo were enrolled. Among them, 111 were coronary heart disease group and 75 were non-coronary heart disease (control group). Whole genome DNA of peripheral blood leukocytes was extracted with phenol-chloroform-isopropanol, and single nucleotide polymorphisms (ABCA1-G596A) were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) Polymorphisms (SNPs). Results The frequencies of GG, GA and AA genotypes of ABCA1-G596A genotype in Han nationality in Ningbo were 0.34, 0.37 and 0.29, respectively. Plasma HDL-c levels in ABCA1-G596A variant genotypes were increased in a dose-dependent manner (P <0.01) and triglyceride levels were decreased in a dose-dependent manner (P <0.05), but plasma total cholesterol And LDL-c levels had no effect. There was no significant difference in frequency distribution of ABCA1-G596A genotype between CHD group and control group (P> 0.05). Conclusion The mutation of ABCA1-G596A gene in coronary heart disease has a significant effect on blood lipid metabolism, but it has no significant association with coronary heart disease.