Academic Journals Database
Disseminating quality controlled scientific knowledge

DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort

ADD TO MY LIST
 
Author(s): Vázquez-Higuera José | Sánchez-Juan Pascual | Rodríguez-Rodríguez Eloy | Mateo Ignacio | Pozueta Ana | Frank Ana | Sastre Isabel | Valdivieso Fernando | Berciano José | Bullido María | Combarros Onofre

Journal: BMC Medical Genetics
ISSN 1471-2350

Volume: 10;
Issue: 1;
Start page: 129;
Date: 2009;
Original page

ABSTRACT
Abstract Background 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 ε4 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.

Tango Jona
Tangokurs Rapperswil-Jona

     Affiliate Program