血液透析患者载脂蛋白E基因多态性与血脂水平检测

Detection of apolipoprotein E gene polymorphism and serum lipid level in hemodialysis patients

目的 探讨血液透析患者脂代谢紊乱的临床特征及载脂蛋白 (Apo)E基因多态性对脂代谢的影响。 方法 采用生化方法检测血液透析组 (112例血液透析患者 )和对照组 (372名健康体检者 )的血清总胆固醇 (TC)、三酰甘油 (TG)、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 (Apo)A1、ApoB、ApoE和脂蛋白 (Lp) (a)水平 ,采用多聚合酶链反应 限制性片断长度 (PCR RFLP)法检测ApoE基因多态性。 结果 与对照组相比 ,血液透析组脂代谢紊乱主要表现为血清TG水平显著增高 ,高于正常者 33.0 % ;HDL C水平显著降低 ,低于正常者 10 .4 %。相关分析显示 ,TG水平与血清白蛋白水平、透析时体外循环血流量显著相关 ;HDL C与尿素清除指数 (KT/V)显著相关。血液透析组中 ,高血压的发生率为 73.6 % ,心血管疾病为 2 5 .0 %。血液透析组中 ,伴心血管疾病者的TG水平显著高于无心血管疾病者 ,伴高血压者与无高血压者血脂水平的差异无显著性。ApoE基因多态性检测结果显示 ,ApoE基因型ε3/ 3及等位基因ε3发生频率最高 ,血液透析组与对照组的差异无显著性。对照组与血液透析组的ApoE基因型ε3/4 +ε4 / 4者TC、TG、LDL C水平较高。结论 血液透析患者脂代谢紊乱主要表现为血清TG、ApoB水平显著增高 ,HDL C等?

Objective To investigate the characteristics of dyslipidemia and the effect of apolipoprotein E (ApoE) gene polymorphism in hemodialysis patients. Methods Serum total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDL C), high density lipoprotein cholesterol (HDL C), apolipoproteins(Apo A1,B, E) and lipoprotein(a) [Lp(a)] were measured and polymerase chain reaction restriction fragment length polymophism (PCR RFLP) was used to detect ApoE gene polymorphism in hemodialysis patients. Results Serum levels of TG and ApoB were significantly higher in the hemodialysis patients than those in the controls, and the levels of TC, LDL C, HDL C were significantly lower comparing with those in the controls. Patients with cardiovascular disease had higher TG level than the patients having no such disease. The data of ApoE gene polymorphism detected by PCR RFLP showed that the numbers of six genotypes(ε2/2,ε2/3,ε2/4,ε3/3,ε3/4,ε4/4) were 3, 15, 0, 76, 9, 2 in the hemodialysis patients and 4, 45, 6, 235, 29, 5 in the controls. There were no statistical differences in Apo E allele or Apo E genotype between the controls and the hemodialysis patients. The levels of serum TC, TG and LDL C were higher in patients with genotype ApoE ε3/4+ε4/4 than those of the other patients. Conclusion Hemodialysis patients are liable to develop hypertrglyeridemia and hypocholesterolemia. TG level might be related to the development of cardiovascular disease in hemodialysis patients, whereas the patients with the allele of ApoE ε4 are liable to develop dyslipidemia.