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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2009

Open Access 01-12-2009 | Research article

No association of CDK5 genetic variants with Alzheimer's disease risk

Authors: José Luis Vázquez-Higuera, Ignacio Mateo, Pascual Sánchez-Juan, Eloy Rodríguez-Rodríguez, Jon Infante, José Berciano, Onofre Combarros

Published in: BMC Medical Genetics | Issue 1/2009

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Abstract

Background

As cyclin-dependent kinase 5 (CDK5) 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 CDK5 by genotyping haplotype tagging SNPs (htSNPs) (rs9278, rs2069459, rs891507, rs2069454, rs1549759 and rs2069442) in a group of 408 Spanish AD cases and 444 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 CDK5 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 CDK5 gene and AD risk in the Dutch population exists.
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Metadata
Title
No association of CDK5 genetic variants with Alzheimer's disease risk
Authors
José Luis Vázquez-Higuera
Ignacio Mateo
Pascual Sánchez-Juan
Eloy Rodríguez-Rodríguez
Jon Infante
José Berciano
Onofre Combarros
Publication date
01-12-2009
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2009
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-10-68

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