title: The effects of APOE and tau gene variability on risk of frontotemporal dementia.
abstract: 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).
authors.affiliation: Regional Neurogenetic Centre, ASL 6 Viale A. Perugini, 88046 Lamezia Terme, CZ, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Bernardi
authors.forename: R G
authors.initials: RG
authors.lastname: Maletta
authors.forename: C
authors.initials: C
authors.lastname: Tomaino
authors.forename: N
authors.initials: N
authors.lastname: Smirne
authors.forename: M
authors.initials: M
authors.lastname: Di Natale
authors.forename: M
authors.initials: M
authors.lastname: Perri
authors.forename: T
authors.initials: T
authors.lastname: Longo
authors.forename: R
authors.initials: R
authors.lastname: Colao
authors.forename: S A M
authors.initials: SA
authors.lastname: Curcio
authors.forename: G
authors.initials: G
authors.lastname: Puccio
authors.forename: M
authors.initials: M
authors.lastname: Mirabelli
authors.forename: T
authors.initials: T
authors.lastname: Kawarai
authors.forename: E
authors.initials: E
authors.lastname: Rogaeva
authors.forename: P H
authors.initials: PH
authors.lastname: St George Hyslop
authors.forename: G
authors.initials: G
authors.lastname: Passarino
authors.forename: G
authors.initials: G
authors.lastname: De Benedictis
authors.forename: A C
authors.initials: AC
authors.lastname: Bruni
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001057:Apolipoproteins E / Q000235:genetics*; D001921:Brain / Q000473:pathology; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D005260:Female; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D012306:Risk; D016875:tau Proteins / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D016875:tau Proteins; D004247:DNA