title: Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
abstract: It has been reported that the H1 haplotype of the tau gene, located on chromosome 17q21, is associated with progressive supranuclear palsy. Recently, it has also been claimed that the H1 haplotype could also be a risk factor for frontotemporal dementia. However, these claims are variable and the involvement of the apolipoprotein E gene as well as the H1 haplotype has been suggested. In light of this we assessed the frequency of tau gene haplotypes in 113 cases of frontotemporal lobar degeneration and 168 control samples. We found a positive association between the H1 haplotype and frontotemporal dementia, but not with any of the other disease groupings (P = 0.029, odds ratio 1.81). We did not observe any affect on age at onset and tau haplotype or apolipoprotein E alleles, nor were any deviation from control frequencies of apolipoprotein E alleles observed. These data are consistent with the hypothesis that the tau gene, or nearby gene on the H1 haplotype, is a risk factor for frontotemporal dementia.
authors.affiliation: Division of Neuroscience, University of Manchester, 1.124 Stopford Building, Oxford Road, Manchester M13 9PT, UK.
authors.forename: Alun
authors.initials: A
authors.lastname: Hughes
authors.forename: David
authors.initials: D
authors.lastname: Mann
authors.forename: Stuart
authors.initials: S
authors.lastname: Pickering-Brown
mesh_terms: D017668:Age of Onset; D000483:Alleles; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D015331:Cohort Studies; D003704:Dementia / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012307:Risk Factors; D017384:Sequence Deletion; D006113:United Kingdom; D016875:tau Proteins / Q000235:genetics*
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D016875:tau Proteins