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目的探讨ABCA1基因R219K多态性在汉族人群中的分布,分析其与血脂及冠心病的关系。方法采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP)的分析方法,检测中国汉族人群中无血缘关系的132名冠心病患者和157名对照者ABCA1基因R219K位点的多态性,并通过直接测序验证。全自动生化分析仪检测血清总胆固醇(TC)、高密度脂蛋白-胆固醇(HDL-C)、低密度脂蛋白-胆固醇(LDL-C)、载脂蛋白AI(apoAI)、载脂蛋白B(apoB)及血糖的水平。分析不同基因型频率的分布特点以及与血脂、CHD的相关性。结果ABCA1基因R219K多态性基因型分布均符合Hardy-Weinberg平衡;湖南地区汉族人群中ABCA1基因R219K多态性位点存在RR、RK、KK三种基因型,发生频率分别为RR(35.3%)、RK(43.6%)、KK(21.1%);冠心病组KK基因型频率(17.4%)低于对照组(24.2%),KK基因型的HDL-C水平明显高于RR型(P<0.05);R219K各基因型中KK基因型的冠脉病变程度低于RR、RK基因型(P<0.05)。结论汉族人群中存在ABCA1基因R219K多态性;ABCA1基因R219K变异KK型产生有益的临床血脂谱,可能是冠心病患者的低危遗传标记;R219K各基因型中KK基因型的冠脉病变程度低于RR、RK基因型。
Objective To investigate the distribution of ABCA1 R219K polymorphism in Chinese Han population and analyze its relationship with serum lipids and coronary heart disease. Methods The unrelated 132 coronary heart disease patients and 157 controls were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in Chinese Han population. ABCA1 gene R219K polymorphism, and verified by direct sequencing. The levels of total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), apolipoprotein AI (apoAI), apolipoprotein B apoB) and blood glucose levels. Analysis of the distribution of different genotype frequencies and the relationship with blood lipids, CHD. Results The distribution of R219K polymorphism of ABCA1 gene was in line with Hardy-Weinberg equilibrium. There were three genotypes of RR, RK and KK in R219K polymorphism of ABCA1 gene in Han population in Hunan Province. The frequency of RR genotype was RR (35.3% , KK (21.1%). The frequency of KK genotype (17.4%) in CHD group was lower than that in control group (24.2%). The HDL-C level in KK genotype was significantly higher than that in RR genotype ). The severity of coronary lesions of KK genotypes in R219K genotypes was lower than that in RR and RK genotypes (P <0.05). CONCLUSIONS: The R219K polymorphism of ABCA1 gene exists in Han population. The R219K variant KK type of ABCA1 gene produces a useful clinical serum lipid profile, which may be a low-risk genetic marker in patients with coronary heart disease. The degree of coronary lesions of KK genotype in R219K genotypes is low In RR, RK genotypes.