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

Authors :
Berciano José
Valdivieso Fernando
Sastre Isabel
Frank Ana
Pozueta Ana
Mateo Ignacio
Rodríguez-Rodríguez Eloy
Sánchez-Juan Pascual
Vázquez-Higuera José
Bullido María J
Combarros Onofre
Source :
BMC Medical Genetics, Vol 10, Iss 1, p 129 (2009)
Publication Year :
2009
Publisher :
BMC, 2009.

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.

Details

Language :
English
ISSN :
14712350
Volume :
10
Issue :
1
Database :
Directory of Open Access Journals
Journal :
BMC Medical Genetics
Publication Type :
Academic Journal
Accession number :
edsdoj.4e4ff2708af54e58b6c0ee0f6f042be2
Document Type :
article
Full Text :
https://doi.org/10.1186/1471-2350-10-129