载脂蛋白E和低密度脂蛋白受体基因多态性与血脂异常追踪。里约热内卢研究。

APOE and LDLR Gene Polymorphisms and Dyslipidemia Tracking. Rio de Janeiro Study.

作者信息

Freitas Rossana Ghessa Andrade de, Campana Erika Maria Gonçalves, Pozzan Roberto, Brandão Andréa Araujo, Brandão Ayrton Pires, Magalhães Maria Eliane Campos, Silva Dayse Aparecida da

机构信息

Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.

出版信息

Arq Bras Cardiol. 2015 Jun;104(6):468-74. doi: 10.5935/abc.20150036. Epub 2015 May 5.

DOI:10.5935/abc.20150036

PMID:26131702

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4484679/

Abstract

BACKGROUND

Studies show an association between changes in apolipoprotein E (ApoE) and LDLR receptor with the occurrence of dyslipidemia.

OBJECTIVES

To investigate the association between polymorphisms of the APOE (ε2, ε3, ε4) and LDLR (A370T) genes with the persistence of abnormal serum lipid levels in young individuals followed up for 17 years in the Rio de Janeiro Study.

METHODS

The study included 56 individuals (35 males) who underwent three assessments at different ages: A1 (mean age 13.30 ± 1.53 years), A2 (22.09 ± 1.91 years) and A3 (31.23 ± 1.99 years). Clinical evaluation with measurement of blood pressure (BP) and body mass index (BMI) was conducted at all three assessments. Measurement of waist circumference (WC) and serum lipids, and analysis of genetic polymorphisms by PCR-RFLP were performed at A2 and A3. Based on dyslipidemia tracking, three groups were established: 0 (no abnormal lipid value at A2 and A3), 1 (up to one abnormal lipid value at A2 or A3) and 2 (one or more abnormal lipid values at A2 and A3).

RESULTS

Compared with groups 0 and 1, group 2 presented higher mean values of BP, BMI, WC, LDL-c and TG (p < 0.01) and lower mean values of HDL-c (p = 0.001). Across the assessments, all individuals with APOE genotypes ε2/ε4 and ε4/ε4 maintained at least one abnormal lipid variable, whereas those with genotype ε2/ε3 did not show abnormal values (χ2 = 16.848, p = 0.032). For the LDLR genotypes, there was no significant difference among the groups.

CONCLUSIONS

APOE gene polymorphisms were associated with dyslipidemia in young individuals followed up longitudinally from childhood.

摘要

背景

研究表明载脂蛋白E（ApoE）和低密度脂蛋白受体（LDLR）的变化与血脂异常的发生之间存在关联。

目的

在里约热内卢研究中，调查载脂蛋白E（ε2、ε3、ε4）和低密度脂蛋白受体（A370T）基因多态性与年轻个体血清脂质水平异常持续17年之间的关联。

方法

该研究纳入了56名个体（35名男性），他们在不同年龄接受了三次评估：A1（平均年龄13.30±1.53岁）、A2（22.09±1.91岁）和A3（31.23±1.99岁）。在所有三次评估中均进行了血压（BP）和体重指数（BMI）测量的临床评估。在A2和A3时测量腰围（WC）和血脂，并通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析基因多态性。根据血脂异常追踪情况，建立了三组：0组（A2和A3时无血脂异常值）、1组（A2或A3时有一个血脂异常值）和2组（A2和A3时有一个或多个血脂异常值）。

结果

与0组和1组相比，2组的BP、BMI、WC、低密度脂蛋白胆固醇（LDL-c）和甘油三酯（TG）平均值更高（p<0.01），高密度脂蛋白胆固醇（HDL-c）平均值更低（p=0.001）。在所有评估中，所有载脂蛋白E基因型为ε2/ε4和ε4/ε4的个体至少有一个血脂变量异常，而基因型为ε2/ε3的个体未显示异常值（χ2=16.848，p=0.032）。对于低密度脂蛋白受体基因型，各组之间无显著差异。