Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

Abstract Alzheimer's disease (AD) is the most common dementing disorder and presents with a progressive and irreversible cognitive decline of gradual onset. To date, several reports have involved iron in AD physiopathology. In this study, we have analysed TFC2 variant and HFE mutations (H63D an...

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Bibliographic Details
Published in:Neurobiology of aging 2007-12, Vol.28 (12), p.1941-1943
Main Authors: Blázquez, L, De Juan, D, Ruiz-Martínez, J, Emparanza, J.I, Sáenz, A, Otaegui, D, Sistiaga, A, Martínez-Lage, P, Lamet, I, Samaranch, L, Buiza, C, Etxeberria, I, Arriola, E, Cuadrado, E, Urdaneta, E, Yanguas, J, López de Munain, A
Format: Article
Language:English
Subjects:
Aged
Alzheimer Disease - epidemiology
Alzheimer Disease - genetics
Alzheimer's disease
APOE
Comorbidity
Female
Genetic Predisposition to Disease - epidemiology
Genetic Predisposition to Disease - genetics
Haemochromatosis
Hemochromatosis Protein
HFE
Histocompatibility Antigens Class I - genetics
Humans
Internal Medicine
Iron
Iron Metabolism Disorders - epidemiology
Iron Metabolism Disorders - genetics
Male
Membrane Proteins - genetics
Neurology
Prevalence
Risk Assessment - methods
Risk Factors
Spain - epidemiology
Transferrin
Transferrin - genetics
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Summary:Abstract Alzheimer's disease (AD) is the most common dementing disorder and presents with a progressive and irreversible cognitive decline of gradual onset. To date, several reports have involved iron in AD physiopathology. In this study, we have analysed TFC2 variant and HFE mutations (H63D and C282Y) in 211 AD patients and 167 controls recruited from an area of the Basque Country. Furthermore, we have studied APOE genotype as it is a well-known risk factor for AD. APOEε4 allele was associated with an increased risk of AD and an earlier age at onset, whereas no association was found between TFC2 or HFE C282Y mutation and disease susceptibility. The frequency of H63D mutation was higher in control population (29.9%) than in AD patients (18%), suggesting a protective role of this allele on AD either due to the presence of the mutation itself or through the effect of other related genes in the ancestral haplotype in which it is included.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2006.08.009