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Open Access Research article

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

José Luis Vázquez-Higuera1, Pascual Sánchez-Juan1, Eloy Rodríguez-Rodríguez1, Ignacio Mateo1, Ana Pozueta1, Ana Frank2, Isabel Sastre3, Fernando Valdivieso3, José Berciano1, María J Bullido3 and Onofre Combarros1*

Author Affiliations

1 Neurology Service and CIBERNED, "Marqués de Valdecilla" University Hospital (University of Cantabria), Santander, Spain

2 Neurology Service and CIBERNED, Hospital Universitario La Paz (UAM), Madrid, Spain

3 Molecular Biology Department and CIBERNED, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain

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BMC Medical Genetics 2009, 10:129  doi:10.1186/1471-2350-10-129

Published: 8 December 2009

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.