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dc.contributor.authorRodríguez Rodríguez, Eloy Manuel 
dc.contributor.authorVázquez Higuera, José Luis
dc.contributor.authorSánchez-Juan, Pascual 
dc.contributor.authorMateo Fernández, José Ignacio
dc.contributor.authorPozueta, Ana
dc.contributor.authorMartínez García, Ana
dc.contributor.authorFrank García, Ana
dc.contributor.authorValdivieso Amate, Fernando
dc.contributor.authorBerciano, José Ángel 
dc.contributor.authorBullido, María Jesús
dc.contributor.authorCombarros Pascual, Onofre 
dc.contributor.otherUniversidad de Cantabriaes_ES
dc.date.accessioned2015-04-20T09:11:11Z
dc.date.available2015-04-20T09:11:11Z
dc.date.issued2010
dc.identifier.issn1387-2877
dc.identifier.urihttp://hdl.handle.net/10902/6232
dc.description.abstractAberrant cholesterol metabolism has been implicated in Alzheimer´s disease (AD). Recent findings have suggested an interaction of Niemann-Pick C1 (NPC1) and ATP-binding cassette transporter A1 (ABCA1) proteins in intracellular cholesterol transport and in maintaining cell cholesterol balance. Underexpression of NPC1 in concert with underexpression of ABCA1 would result in increased cholesterol accumulation and increased AD risk. We examined a functional polymorphism in the ABCA1 promoter region (−477, rs2422493), and four NPC1 polymorphisms in exon 6 (rs18050810), intron 20 (rs4800488), intron 22 (rs2236707), and intron 24 (rs2510344) capturing 85% of genetic variability in Hap Map CEU population, in a group of 631 Spanish AD patients and 731 controls. Subjects carrying both the ABCA1 (−477) TT genotype and the NPC1 (exon 6) GG genotype (OR = 1.89; 95% CI 1.04-3.41), NPC1 (intron 20) AA genotype (OR = 2.05; 95% CI 1.26-3.33), NPC1 (intron 22) AA genotype (OR = 2.05; 95% CI 1.18-3.58), or NPC1 (intron 24) GG genotype (OR = 1.89; 95% CI 1.16-3.07) had a higher risk of developing AD than subjects without these risk genotypes. Testing for epistatic interaction between genes in the pathway of cholesterol metabolism might be useful for predicting AD risk.es_ES
dc.format.extent14 p.es_ES
dc.language.isoenges_ES
dc.publisherIOS Presses_ES
dc.rights© IOS Presses_ES
dc.sourceJournal of Alzheimer's Disease. 2010;21(2):619-25es_ES
dc.subject.otherAlzheimer's diseasees_ES
dc.subject.otherNPC1es_ES
dc.subject.otherABCA1es_ES
dc.subject.otherCholesteroles_ES
dc.subject.otherPolymorphismes_ES
dc.subject.otherEpistasises_ES
dc.titleEpistasis between intracellular cholesterol trafficking-related genes (NPC1 and ABCA1) and Alzheimer's disease riskes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsopenAccesses_ES
dc.identifier.DOI10.3233/JAD-2010-100432
dc.type.versionacceptedVersiones_ES


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