The effects of APOE and tau gene variability on risk of frontotemporal dementia
The effects of APOE and tau gene variability on risk of frontotemporal dementia
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DOI：
10.1016/j.neurobiolaging.2005.03.008
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发表时间：
2006-05-01
影响因子：
4.2
通讯作者：
Bruni, AC
中科院分区：
文献类型：
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作者：
Bernardi, L;Maletta, RG;Bruni, AC
额颞叶痴呆(FTD)是一种复杂的痴呆综合征，其遗传/非遗传危险因素大多未知。本研究的目的是研究APOE和/或tau基因变异性是否影响FTD的风险。从基因相同的人群(意大利南部的卡拉布里亚)收集FTD病例样本(散发性：n=54；家族性：n=46，每个家庭一个受试者)，并与从同一人群中提取的年龄和性别匹配的对照组(n=180)进行比较分析。Logistic回归分析显示，载脂蛋白E基因变异影响疾病发生的概率，等位基因epsilon 4增加(exp((Beta 1))=2.6895%可信区间；p=0.001)和等位基因epsilon 2降低(exp((Beta 1))=0.28，[0.12-0.66]95%可信区间；p=0.003)。相反，tau基因的变异是无效的(对于H1或H2单倍型来说，exp((Beta 1))与1没有显著差异)，尽管HI单倍型在增加epsilon 2等位基因的保护作用方面有很小的影响(p=0.007)。(C)2005 Elsevier Inc.保留所有权利。
Frontotemporal dementia (FTD) is a complex dementing syndrome whose genetic/non genetic risk factors are mostly unknown. Aim of the present work was to investigate whether APOE and/or tau gene variability does affect the risk of FTD. A sample of FTD cases (sporadic: n = 54; familial: n = 46, one subject per family) was collected in a genetically homogeneous population (Calabria, southern Italy) and analyzed in comparison with an age- and sex-matched control group (n = 180) extracted from the same population. Logistic regression analysis showed that APOE gene variability affects the probability of disease, with allele epsilon 4 increasing (exp((beta 1)) = 2.68 with [1.5 1-4.76] 95% confidence interval; p = 0.001) and allele epsilon 2 decreasing (exp((beta 1)) = 0.28 with [0.12-0.66] 95% confidence interval; p = 0.003) the risk of FrD. On the contrary, tau gene variability was ineffectual (exp((beta 1)) non significantly different from 1 for either H1 or H2 haplotypes), although a small effect was observed by the H I haplotype in increasing the protective effect of the epsilon 2 allele (p = 0.007). (c) 2005 Elsevier Inc. All rights reserved.