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dc.contributor.authorVázquez Higuera, José Luis
dc.contributor.authorSánchez Juan, Pascual 
dc.contributor.authorRodríguez Rodríguez, Eloy
dc.contributor.authorMateo Fernández, José Ignacio
dc.contributor.authorPozueta, Ana
dc.contributor.authorFrank García, Ana
dc.contributor.authorSastre Merlín, Isabel
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.description.abstractBACKGROUND: As dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD. METHODS: We examined genetic variations of DYRK1A by genotyping haplotype tagging SNPs (htSNPs) (rs11701483, rs2835740, rs1137600, rs2835761, rs2835762, rs2154545 and rs8132976) in a group of 634 Spanish AD cases and 733 controls. RESULTS: There were no differences in the genotypic, allelic or haplotypic distributions between cases and controls in the overall analysis or after stratification by APOE epsilon4 allele. CONCLUSION: Our negative findings in the Spanish population argue against the hypothesis that DYRK1A genetic variations are causally related to AD risk. Still, additional studies using different sets of patients and control subjects deserve further attention, since supporting evidence for association between DYRK1A gene and AD risk in the Japanese population exists.es_ES
dc.format.extent5 p.es_ES
dc.publisherBioMed Centrales_ES
dc.rightsAtribución 3.0 Españaes_ES
dc.sourceBMC Medical Genetics. 2009 Dec 8;10:129es_ES
dc.titleDYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohortes_ES

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Atribución 3.0 EspañaExcept where otherwise noted, this item's license is described as Atribución 3.0 España