The effects of APOE and tau gene variability on risk of frontotemporal dementia
2005; Elsevier BV; Volume: 27; Issue: 5 Linguagem: Inglês
10.1016/j.neurobiolaging.2005.03.008
ISSN1558-1497
AutoresLivia Bernardi, Raffaele Maletta, Carmine Tomaino, Nicoletta Smirne, M. Di Natale, Maria Perri, Teresa Longo, Rosanna Colao, Sabrina A.M. Curcio, Gianfranco Puccio, Maria Mirabelli, Toshitaka Kawarai, Ekaterina Rogaeva, Peter St George‐Hyslop, Giuseppe Passarino, G. De Benedictis, Amalia C. Bruni,
Tópico(s)Prion Diseases and Protein Misfolding
ResumoFrontotemporal 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 ɛ4 increasing (exp(β1) = 2.68 with [1.51–4.76] 95% confidence interval; p = 0.001) and allele ɛ2 decreasing (exp(β1) = 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(β1) 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 ɛ2 allele (p = 0.007).
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