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Karger Publishers, Dementia and Geriatric Cognitive Disorders, 3(15), p. 151-154

DOI: 10.1159/000068480

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Interaction of the H63D Mutation in the Hemochromatosis Gene with the Apolipoprotein E Epsilon 4 Allele Modulates Age at Onset of Alzheimer’s Disease

Journal article published in 2003 by Onofre Combarros, Marisa García-Román, Ana Fontalba, José Luis Fernández-Luna, Javier Llorca ORCID, Jon Infante, José Berciano
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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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) Ε4 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 Ε4 allele to significantly reduce age at onset of AD compared to ApoE Ε4 carriers alone, but has no effect on age at onset in ApoE Ε4 non-carriers.