Schwanke Carla Helena Augustin, da Cruz Ivana Beatrice Mânica, Leal Ney Furhmann, Scheibe Rosane, Moriguchi Yukio, Moriguchi Emílio Hideyuki
Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul.
Arq Bras Cardiol. 2002 Jun;78(6):561-79. doi: 10.1590/s0066-782x2002000600004.
To establish the allelic and genotypic frequencies related to apolipoprotein E (ApoE) polymorphism and association of the genotypes with risk factors and cardiovascular morbidity in an elderly population with longevity.
We analyzed 70 elderly patients aged 80 years or more who were part of the Projeto Veranópolis. We used the gene amplification technique through the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and cleavage with the restriction enzyme Hha I to identify the ApoE genotypes. The most frequent genotypes were compared considering biological variables and cardiovascular risks and morbidity.
The frequencies of the E2, E3, and E4 alleles were 0.05, 0.84, and 0.11, respectively, and of the genotypes were as follows: E3E3 (0.70), E3E4 (0.22), E2E3 (0.06), and E2E2 (0.02). Individuals with the E3E4 had a mean age greater than those with the E3E3. No association was observed between the genotypes and the variables analyzed, except for obesity, which was associated with the E3E3 genotype. Individuals with the E3E4 genotype had high levels of LDL-cholesterol and fibrinogen as compared with those with the E3E3 genotype.
The results suggest that the E4E4 genotype may be associated with early mortality. A balance between the protective or neutral factors and the cardiovascular risk factors may occur among the individuals with different genotypes, attenuating the negative effects of the E4 allele.
确定与载脂蛋白E(ApoE)多态性相关的等位基因和基因型频率,以及这些基因型与长寿老年人群的危险因素和心血管疾病发病率之间的关联。
我们分析了70名年龄在80岁及以上的老年患者,他们是维拉诺波利斯项目的一部分。我们使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)基因扩增技术,并用限制性内切酶Hha I进行切割,以鉴定ApoE基因型。比较了最常见的基因型在生物学变量、心血管风险和发病率方面的情况。
E2、E3和E4等位基因的频率分别为0.05、0.84和0.11,基因型频率如下:E3E3(0.70)、E3E4(0.22)、E2E3(0.06)和E2E2(0.02)。E3E4基因型的个体平均年龄高于E3E3基因型的个体。除肥胖与E3E3基因型相关外,未观察到基因型与所分析变量之间的关联。与E3E3基因型的个体相比,E3E4基因型的个体低密度脂蛋白胆固醇和纤维蛋白原水平较高。
结果表明,E4E4基因型可能与早期死亡有关。在不同基因型的个体中,保护或中性因素与心血管危险因素之间可能存在平衡,从而减弱E4等位基因的负面影响。