title: 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 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. APOE epsilon 4 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.
authors.affiliation: Experimental Unit, Donostia Hospital, San Sebastián, Spain. uniexpe2@chdo.osakidetza.net
authors.forename: L
authors.initials: L
authors.lastname: Blázquez
authors.forename: D
authors.initials: D
authors.lastname: De Juan
authors.forename: J
authors.initials: J
authors.lastname: Ruiz-Martínez
authors.forename: J I
authors.initials: JI
authors.lastname: Emparanza
authors.forename: A
authors.initials: A
authors.lastname: Sáenz
authors.forename: D
authors.initials: D
authors.lastname: Otaegui
authors.forename: A
authors.initials: A
authors.lastname: Sistiaga
authors.forename: P
authors.initials: P
authors.lastname: Martínez-Lage
authors.forename: I
authors.initials: I
authors.lastname: Lamet
authors.forename: L
authors.initials: L
authors.lastname: Samaranch
authors.forename: C
authors.initials: C
authors.lastname: Buiza
authors.forename: I
authors.initials: I
authors.lastname: Etxeberria
authors.forename: E
authors.initials: E
authors.lastname: Arriola
authors.forename: E
authors.initials: E
authors.lastname: Cuadrado
authors.forename: E
authors.initials: E
authors.lastname: Urdaneta
authors.forename: J
authors.initials: J
authors.lastname: Yanguas
authors.forename: A
authors.initials: A
authors.lastname: López de Munain
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D015897:Comorbidity; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D015995:Prevalence; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology; D014168:Transferrin / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin