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dc.contributor.authorVázquez Higuera, José Luis
dc.contributor.authorMateo Fernández, José Ignacio
dc.contributor.authorSánchez Juan, Pascual 
dc.contributor.authorRodríguez Rodríguez, Eloy
dc.contributor.authorPozueta, Ana
dc.contributor.authorCalero Lara, Miguel
dc.contributor.authorDobato Ayuso, José Luis
dc.contributor.authorFrank García, Ana
dc.contributor.authorValdivieso Amate, Fernando
dc.contributor.authorBerciano Blanco, José Ángel 
dc.contributor.authorBullido, María Jesús
dc.contributor.authorCombarros Pascual, Onofre 
dc.contributor.otherUniversidad de Cantabriaes_ES
dc.date.accessioned2015-04-17T12:17:36Z
dc.date.available2015-04-17T12:17:36Z
dc.date.issued2011
dc.identifier.issn1387-2877
dc.identifier.urihttp://hdl.handle.net/10902/6218
dc.description.abstractTau abnormal hyperphosphorylation and the formation of neurofibrillary tangles in Alzheimer´s disease (AD) brain is the result of upregulation of tau kinases. In a group of 729 Spanish late-onset AD patients and 670 healthy controls, we examined variations into a set of 20 candidate genes of kinases involved in tau phosphorylation at AD-related sites (PRKACB; CAMK2A; MARK1, 2, 3 and 4; CSNK1D; CDC2; RPS6KB1 and 2; p38α and β; IB1; JNK1, 2 and 3; MEK1 and 2; ERK1 and 2), to address hypotheses of genetic variation that might influence AD risk. There was an increased frequency of RPS6KB2 (intron 2, rs917570) minor allele in patients (50%) versus controls (39%) (OR = 1.52; 95% CI 1.30-1.77; p = 1.24×10−5 Bonferroni corrected), and the CDC2 AGC haplotype derived from SNPs in introns 3 (rs2448347), 5 (rs2456772), and 7 (rs1871447) showed a protective effect against AD in APOE ε4 allele noncarriers (permutation p = 1.0×10-4) with a frequency of 9% in cases and 15% in controls. Common genetic variation in the tau kinases pathway does underlie individual differences in susceptibility to AD.es_ES
dc.format.extent16 p.es_ES
dc.language.isoenges_ES
dc.publisherIOS Presses_ES
dc.rights© IOS Presses_ES
dc.sourceJournal of Alzheimer's Disease. 2011;27(2):291-7es_ES
dc.subject.otherAlzheimer's diseasees_ES
dc.subject.otherKinaseses_ES
dc.subject.otherTaues_ES
dc.subject.otherPhosphorylationes_ES
dc.subject.otherPolymorphismes_ES
dc.titleGenetic variation in the tau kinases pathway may contribute to the risk of Alzheimer´s diseasees_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsopenAccesses_ES
dc.identifier.DOI10.3233/JAD-2011-110794
dc.type.versionacceptedVersiones_ES


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