肾病综合征患儿载脂蛋白E遗传表型及与血脂水平的关系

The relationship between apolipoprotein E genetic phenotype polymorphism and plasma lipids in children with nephrotic syndrome

目的 :研究肾病综合征 (NS)患儿载脂蛋白E (ApoE)等位基因频率分布及ApoE遗传多态性对血脂水平的影响。方法 :NS患儿禁食 12h ,采静脉血 ,用等电聚焦电泳法测定ApoE遗传表型 ,酶法和免疫比浊法测定 6项血脂指标。结果 :NS患儿血清TG、TC、LDL C、HDL C、ApoB水平明显升高 (P <0 .0 0 1) ,Apoe4等位基因频率与健康儿童相比明显增高 (P <0 .0 5 )。NS患儿不同ApoE表型各项血脂指标均未见明显差异。结论 :NS患儿存在明显脂质代谢紊乱 ,Apoe4等位基因频率明显增高。ApoE遗传多态性对NS患儿血脂水平未见明显影响。

Objective:To research into the distribution and relative allele frequency of apolipoprotein E(ApoE) genotypes and the effects of ApoE gene polymorphism on the concentrations of lipids and lipoproteins in children with primary nephrotic syndrome (PNS).Methods:six lipids parameters were determined by enzymatic assay or turbidimetric immunoassay ,and ApoE genotypes were detected by using isoelectric focusing of serum followed by immunoblotting with anti apoE antiserum in 26 NS children and normal control subjects.Results:Compared with the control group , the TC, TG, LDL C, HDL C and ApoB in serum were significantly increased (P<0.001)and the frequency of Apoe4 allele was higher(P<0.05) in PNS children. The mean values of lipids and lipoproteins in PNS children showed no difference among ApoE phenotypes.Conclusion:PNS is associated with a marked increase in TC, TG, LDL C,HDL C and ApoB and the frequency of Apoe4 allele was higher.ApoE gene polymorphism has no obvious effects on the concentrations of lipids and lipoproteins in PNS children.