title: Interaction of the H63D mutation in the hemochromatosis gene with the apolipoprotein E epsilon 4 allele modulates age at onset of Alzheimer's disease.
abstract: The H63D mutation in the hemochromatosis gene (HFE) has recently been considered as a risk factor in Alzheimer's disease (AD) with advancing age at onset of the disease, independently of the apolipoprotein E (ApoE) epsilon4 allele effect. We examined the distribution of the H63D mutation and ApoE genotypes as a function of age at AD onset in 328 patients with sporadic AD. Our data show that the mutant H63D allele potentially interacts with the ApoE epsilon4 allele to significantly reduce age at onset of AD compared to ApoE epsilon4 carriers alone, but has no effect on age at onset in ApoE epsilon4 non-carriers.
authors.affiliation: Unit of Neurology, 'Marqués de Valdecilla' University Hospital, University of Cantabria, Spain.
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
authors.forename: Marisa
authors.initials: M
authors.lastname: García-Román
authors.forename: Ana
authors.initials: A
authors.lastname: Fontalba
authors.forename: José L
authors.initials: JL
authors.lastname: Fernández-Luna
authors.forename: Javier
authors.initials: J
authors.lastname: Llorca
authors.forename: Jon
authors.initials: J
authors.lastname: Infante
authors.forename: José
authors.initials: J
authors.lastname: Berciano
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors; D012494:Sampling Studies
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E