Bernardi L, Maletta R G, Tomaino C, Smirne N, Di Natale M, Perri M, Longo T, Colao R, Curcio S A M, Puccio G, Mirabelli M, Kawarai T, Rogaeva E, St George Hyslop P H, Passarino G, De Benedictis G, Bruni A C
Regional Neurogenetic Centre, ASL 6 Viale A. Perugini, 88046 Lamezia Terme, CZ, Italy.
Neurobiol Aging. 2006 May;27(5):702-9. doi: 10.1016/j.neurobiolaging.2005.03.008.
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 epsilon4 increasing (exp(beta1) = 2.68 with [1.51-4.76] 95% confidence interval; p = 0.001) and allele epsilon2 decreasing (exp(beta1) = 0.28 with [0.12-0.66] 95% confidence interval; p = 0.003) the risk of FTD. On the contrary, tau gene variability was ineffectual (exp(beta1) non significantly different from 1 for either H1 or H2 haplotypes), although a small effect was observed by the H1 haplotype in increasing the protective effect of the epsilon2 allele (p = 0.007).
额颞叶痴呆（FTD）是一种复杂的痴呆综合征，其遗传/非遗传风险因素大多未知。本研究的目的是调查APOE和/或tau基因变异是否会影响FTD的风险。在一个基因同质的人群（意大利南部的卡拉布里亚）中收集了FTD病例样本（散发性：n = 54；家族性：n = 46，每个家族一名受试者），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。逻辑回归分析表明，APOE基因变异会影响患病概率，ε4等位基因增加（exp(beta1)=2.68，95%置信区间为[1.51 - 4.76]；p = 0.001），而ε2等位基因降低（exp(beta1)=0.28，95%置信区间为[0.12 - 0.66]；p = 0.003）FTD风险。相反，tau基因变异无效（H1或H2单倍型的exp(beta1)与1无显著差异），尽管观察到H1单倍型在增强ε2等位基因的保护作用方面有较小影响（p = 0.007）。
