Association analysis of the paraoxonase-1 gene with Alzheimer's disease
Association analysis of the paraoxonase-1 gene with Alzheimer's disease
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DOI：
10.1016/j.neulet.2006.08.074
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发表时间：
2006-11-20
影响因子：
2.5
通讯作者：
Sorbi, Sandro
中科院分区：
文献类型：
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作者：
Cellini, Elena;Tedde, Andrea;Sorbi, Sandro
对氧磷酶 (PON) 基因簇中的遗传变异，特别是 PON-I 基因中的单个 C/T 启动子多态性 (rs 705381)，最近已与阿尔茨海默病 (AD) 相关。特别是 T 等位基因会增加患 AD 的风险。在这里，我们研究了这种多态性在由 306 名散发性 AD 患者和 275 名对照组成的意大利病例对照人群中的潜在作用，并评估了与 ApoE 基因型可能的相互作用。没有观察到 PON-I 多态性与 AD 之间的关联。与对照组相比，AD 患者的 T 等位基因频率稍高，但这远未达到统计学显着性。经过评估，我们的样品在 0.05 的 ce 水平下具有 97.3% 的功效检测 OR 为 2.0（OR = 1.5 的功效为 64.3%）。没有证据表明 T 风险等位基因和 ApoE epsilon 4 等位基因状态之间存在相互作用，也没有检测到 PON-1 多态性对发病年龄的影响。我们的结果并不支持表明 PON-I 启动子多态性在 AD 中起主要作用的其他研究，这表明需要其他大型研究来进一步阐明 PON 对普通人群疾病发展的影响。 (c) 2006 Elsevier Ireland Ltd. 保留所有权利。
Genetic variants in the paraoxonase (PON) gene cluster, particularly a single C/T promoter polymorphism (rs 705381) in the PON- I gene, have recently been associated with Alzheimer's disease (AD). The T allele, in particular, presents an increased risk for the development of AD. Here, we investigate the potential role of this polymorphism in an Italian case-control population consisting of 306 sporadic AD patients and 275 controls, and also evaluate a possible interaction with the ApoE genotype. No association between the PON- I polymorphism and AD was observed. The T allele frequency was slightly over-represented in AD patients compared to the controls, but this was far from being statistically significant. Our sample was evaluated to have 97.3% power to detect an OR of 2.0 (64.3% power with OR = 1.5) at an ce level of 0.05. No evidence of an interaction between the T risk-allele and the ApoE epsilon 4 allele status and no effect of the PON-1 polymorphism on age at onset was detected. Our results do not support other studies indicating that the PON- I promoter polymorphism plays a major role in AD, suggesting that other large studies are necessary to further elucidate the effect of PON on the development of the disease in the general population. (c) 2006 Elsevier Ireland Ltd. All rights reserved.