载脂蛋白E基因多态性与血脂水平及高脂血症的相关性

Association of polymorphisms of apoprotein E and lipid levels with hyperlipidemia

目的:分析载脂蛋白E基因多态性、血脂水平与高脂血症的关系。方法:选择2005-06/2006-03武汉大学中南医院收治的高脂血症患者165例为高脂血症组,另外108例健康体检者为健康对照组。所有受试者均采集空腹静脉血,应用等位基因特异性多重聚合酶链反应技术进行载脂蛋白E基因多态性分析,同时测定所有样本血清中总胆固醇,三酰甘油,载脂蛋白AI,载脂蛋白B,高、低密度脂蛋白胆固醇,脂蛋白α和载脂蛋白E水平,并比较不同载脂蛋白E基因型和等位基因受试者血脂水平的差异。结果:273例受试者全部完成测试进入结果分析。①共检出载脂蛋白E的4种基因型,以E3/3频率最高。高脂血症组ApoEE3/3基因型频率明显低于健康对照组(66.1%,75.0%,P<0.05),载脂蛋白E3/4基因型频率明显高于健康对照组(16.4%,6.5%,P<0.05),载脂蛋白Eε4等位基因频率又明显多于健康对照组(12.3%,3.2%,P<0.05)。②高脂血症组总胆固醇、三酰甘油、低密度脂蛋白胆固醇、载脂蛋白E水平明显高于健康对照组(P<0.05),而高密度脂蛋白胆固醇,载脂蛋白AI明显低于正常对照组(P<0.05)。③高脂血症组中载脂蛋白Eε4携带者的总胆固醇、三酰甘油和低密度脂蛋白胆固醇水平明显高于ε2和ε3携带者;载脂蛋白Eε2携带者的总胆固醇、低密度脂蛋白胆固醇、脂蛋白α水平最低。载脂蛋白E水平顺序是E2/3>E3/3>E3/4。结论:载脂蛋白Eε4等位基因与高脂血症有关,载脂蛋白E基因多态性可能是高脂血症患者的遗传因素。

AIM： To explore the association of apoprotein E （apoE） polymorphisms and lipid levels with hypedipidemia METHODS： Totally 165 patients with hypedipidemia and 108 healthy controls admitted in Zhongnan Hospital of Wuhan University from June 2005 to March 2006 were recruited, and their fasting vein blood were collected. Allele-specific multiplex-polymerase chain reaction （PCR） was used for apoE polymorphisms analysis. The plasma total cholesterol （TC）, triglyceride （TG）, apoB, apoAI, high density lipoprotein cholesterol （HDL-C）, low density lipoprotein cholesterol （LDL-C）, lipoprotein alpha LP （α） and apoE levels were determined. The difference of lipid levels in the subjects with different apoE genotype and allele frequencies was compared. RESULTS： Totally 273 subjects were involved in the result analysis.① Four genotypes were identified, and the E3/3 genotype ranked first. The apoEE3/3 genotype in hypedipidemia group was obviously lower than that in the healthy control group （66.1%,75.0%,P〈 0.05）, and the apoE3/4 genotypic frequency was markedly higher than that in the healthy control group （16.4% ,6.5%, P 〈 0.05）. The apopEε4 allele frequencies were remarkably higher than those in the healthy control group （12.3% ,3.2% ,P 〈 0.05）. ②The levels of TC, TG, LDL-C and apoE in hypedipidemia group was obviously higher than those in the healthy control group （P 〈 0.05）, and contrary to that of HDL-C and apoAI （P 〈 0.05）. ③In the hypedipidemia group the levels of TC, TG and LDL-C with apoEε4 allele were obviously higher than those withε2 andε3 allele. The levels of TC, LDL-C and LP（α） of persons with apoEε2 allele were the lowest. The levels of apoE ranked with E2/3 〉 E3/3 〉 E3/4. CONCLUSION： The apoEε4 allele frequencies are associated with hypedipidemia, and the polymorphisms of apoE may be a genetic factor for hypedipidemia.