Health Science Institute, Pró-Reitoria de Pesquisa e Inovação, PROPI Sala 201 F, Universidade Feevale, RS 239, No. 2755, B. Vila Nova, Novo Hamburgo, RS, 93352-000, Brazil.
Neurochem Res. 2011 Aug;36(8):1533-9. doi: 10.1007/s11064-011-0481-7. Epub 2011 May 1.
Alzheimer's disease is a complex neurodegenerative disorder. Several genes have been suggested as Alzheimer's susceptibility factors, the apolipoprotein E (APOE) gene being an established susceptibility gene and the genes coding angiotensin-converting enzyme (ACE) and apolipoprotein C1 (APOC1) being considered possible candidate genes for the disease. The objective of this study was to investigate the association of ACE and APOC1 gene polymorphisms with susceptibility to Alzheimer's disease and dementia in general, both alone and combined with the APOE gene. Forty-seven patients with dementia in general (35 of them with Alzheimer's disease) and 85 controls were investigated. The haplotypes E3/-317ins and E4/-317ins of APOE/APOC1 genes were significantly more frequent in the groups with Alzheimer's disease and dementia in general (P < 0.001). The frequency of the ACEins allele was also greater in the groups with Alzheimer's disease and dementia in general (P = 0.022; P = 0.045), but genotype frequencies were only different in groups without the E4/-317*ins haplotype (P = 0.012 for Alzheimer's disease; P = 0.04 for dementia). Our data point to important genetic interactions involved in these diseases.
阿尔茨海默病是一种复杂的神经退行性疾病。有几个基因被认为是阿尔茨海默病的易感性因素，载脂蛋白 E（APOE）基因是一个已确立的易感性基因，血管紧张素转换酶（ACE）和载脂蛋白 C1（APOC1）基因被认为是该病的可能候选基因。本研究旨在探讨 ACE 和 APOC1 基因多态性与阿尔茨海默病及一般痴呆的易感性的关系，单独及与 APOE 基因联合。共研究了 47 例痴呆患者（其中 35 例为阿尔茨海默病）和 85 例对照。APOE/APOC1 基因的 E3/-317ins 和 E4/-317ins 单倍型在阿尔茨海默病和一般痴呆组中明显更为常见（P<0.001）。ACEins 等位基因在阿尔茨海默病和一般痴呆组中的频率也更高（P=0.022；P=0.045），但基因型频率仅在没有 E4/-317*ins 单倍型的组中不同（P=0.012 用于阿尔茨海默病；P=0.04 用于痴呆）。我们的数据表明这些疾病涉及重要的遗传相互作用。
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