Departamento de Análises Clínicas e Toxicológicas, Faculdade de Farmácia, Universidade Federal de Minas Gerais,Avenida Antônio Carlos 6627, Campus Pampulha, Belo Horizonte, 31270-901, Minas Gerais, Brazil.
Curr Alzheimer Res. 2010 Sep;7(6):556-63. doi: 10.2174/156720510792231711.
Apolipoprotein-E (apoE) ε4 allele is a known risk factor for Alzheimer's disease (AD). Polymorphism of apoE is also one of the most important genetic markers for coronary artery disease (CAD). The allelic variation in the apoE gene has a significant effect on inter-individual variation of lipids and lipoprotein plasma levels as well. This study investigated whether apoE polymorphism affects the plasma levels of apoE and the possible association to CAD extent and cognitive functions.
Plasma apoE levels and apoE genotypes were evaluated of subjects with normal coronary arteries, and individuals with angiographycally confirmed mild/moderate or severe atheromatosis. The cognitive performance of the volunteers was also measured by mini-mental state examination (MMSE).
Out of the 6 expected genotypes, only 5 were detected in participants: E3/3 (56.0%), E3/4 (23.6%), E4/4 (8.2%), E2/4 (3.3%), E2/3 (8.9%). The ε3 allele (72%) was the most frequent, followed by ε4 (22%) and ε2 (6%). No difference was found in plasma levels of either apoE or in apoE genotype frequencies among the groups, however MMSE scores of CAD patients irrespective of their atheromatosis extent were significantly lower than that seen in the normal population.
Although neither apoE plasma levels, nor apoE polymorphism in patients presenting with mild/moderate or severe atheromatosis showed to be associated with CAD severity, the presence of atheromatosis in the heart vessels positively correlated with cognitive dysfunction.
载脂蛋白 E (apoE) ε4 等位基因是阿尔茨海默病 (AD) 的已知风险因素。apoE 的多态性也是冠心病 (CAD) 的最重要遗传标志物之一。apoE 基因的等位基因变异对个体间脂质和脂蛋白血浆水平的个体差异也有显著影响。本研究旨在探讨 apoE 多态性是否影响 apoE 的血浆水平,以及与 CAD 程度和认知功能的可能相关性。
评估了具有正常冠状动脉的受试者和经血管造影证实的轻度/中度或重度动脉粥样硬化的个体的血浆 apoE 水平和 apoE 基因型。志愿者的认知表现也通过简易精神状态检查(MMSE)进行了测量。
在预期的 6 种基因型中,仅在参与者中检测到 5 种:E3/3(56.0%)、E3/4(23.6%)、E4/4(8.2%)、E2/4(3.3%)、E2/3(8.9%)。ε3 等位基因(72%)最常见,其次是 ε4(22%)和 ε2(6%)。然而,在各组之间,apoE 血浆水平或 apoE 基因型频率均无差异,但无论动脉粥样硬化程度如何,CAD 患者的 MMSE 评分均明显低于正常人群。
尽管在轻度/中度或重度动脉粥样硬化患者中,apoE 血浆水平或 apoE 多态性均与 CAD 严重程度无关,但血管中存在动脉粥样硬化与认知功能障碍呈正相关。