Salo M K, Rantanen R, Huupponen T, Lehtimäki T, Jokela H
Department of Paediatrics, University Hospital of Tampere, Finland.
Eur J Pediatr. 1993 Jul;152(7):564-8. doi: 10.1007/BF01954081.
Apolipoprotein E (apoE) polymorphism is a genetic determinant of serum lipoprotein levels and coronary heart disease risk. ApoE appears in three major isoforms E2, E3 and E4, coded by corresponding alleles epsilon 2, epsilon 3 and epsilon 4. These give six different phenotypes. Patients with insulin dependent diabetes (IDDM) have been reported to have increased incidence of E2/2 homozygosity. We studied the frequencies of apoE phenotypes and their association with plasma lipids in 201 diabetic children, aged 2-17 years, and in 216 healthy controls with the same age range. Phenotyping was performed directly from plasma by iso-electric focusing and immunoblotting. Plasma total and high density lipoprotein (HDL) cholesterol (C) and triglycerides were determined by routine laboratory methods. Apolipoprotein A1 (apoA1) and B (apoB) were measured by turbidometry. There were no differences in apoE phenotype or allele distributions between the diabetic and control subjects. The frequencies of epsilon 2, epsilon 3, and epsilon 4 in the diabetic and control children were 0.08 versus 0.07, 0.73 versus 0.72 and 0.19 versus 0.21. The difference in apoE2/2 frequencies (2.0 in diabetic and 0.5% in normal children) was not statistically significant. In the diabetic children, there was a distinct relation between apoE phenotype and plasma lipids; presence of apoE2 was associated with the lowest and that of apoE4 with the highest concentrations of total and low density lipoprotein (LDL) C, and apoB. Ratios of HDL-C/LDL-C and apoA1/apoB showed on opposite trend. The influence of apoE polymorphism on plasma lipids was less clear in the controls.(ABSTRACT TRUNCATED AT 250 WORDS)
载脂蛋白E(apoE)多态性是血清脂蛋白水平和冠心病风险的遗传决定因素。ApoE有三种主要异构体E2、E3和E4,由相应的等位基因ε2、ε3和ε4编码。这些产生六种不同的表型。据报道,胰岛素依赖型糖尿病(IDDM)患者中E2/2纯合子的发生率增加。我们研究了201名2至17岁糖尿病儿童和216名同龄健康对照者中apoE表型的频率及其与血脂的关系。通过等电聚焦和免疫印迹直接从血浆中进行表型分析。血浆总胆固醇和高密度脂蛋白(HDL)胆固醇(C)以及甘油三酯通过常规实验室方法测定。载脂蛋白A1(apoA1)和B(apoB)通过比浊法测量。糖尿病患者和对照者之间的apoE表型或等位基因分布没有差异。糖尿病儿童和对照儿童中ε2、ε3和ε4的频率分别为0.08对0.07、0.73对0.72和0.19对0.21。apoE2/2频率的差异(糖尿病儿童中为2.0%,正常儿童中为0.5%)无统计学意义。在糖尿病儿童中,apoE表型与血脂之间存在明显关系;apoE2的存在与总胆固醇和低密度脂蛋白(LDL)C以及apoB的最低浓度相关,而apoE4的存在与最高浓度相关。HDL-C/LDL-C和apoA1/apoB的比值呈现相反趋势。在对照者中,apoE多态性对血脂的影响不太明显。(摘要截短至250字)