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Open Access Research article

Genetic variation in the tau protein phosphatase-2A pathway is not associated with Alzheimer's disease risk

José L Vázquez-Higuera1, Ignacio Mateo1, Pascual Sánchez-Juan1, Eloy Rodríguez-Rodríguez1, Ana Pozueta1, Miguel Calero2, José L Dobato3, Ana Frank-García4, Fernando Valdivieso5, José Berciano1, Maria J Bullido5 and Onofre Combarros1*

Author Affiliations

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

2 Spongiform Encephalopathies Unit, National Microbiology Centre and CIBERNED, Carlos III Health Institute, Madrid, Spain

3 Alzheimer Disease Research Unit, CIEN Foundation, Carlos III Health Institute, Alzheimer Center Reina Sofia Foundation, Madrid, Spain

4 Neurology Service and CIBERNED, Hospital Universitario La Paz (U.A.M.), Madrid, Spain

5 Molecular Biology Department and CIBERNED, Centro de Biología Molecular Severo Ochoa (C.S.I.C.-U.A.M.), Madrid, Spain

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BMC Research Notes 2011, 4:327  doi:10.1186/1756-0500-4-327

Published: 7 September 2011

Abstract

Background

Tau abnormal hyperphosphorylation and the formation of neurofibrillary tangles in AD brain is the result of upregulation of tau kinases and downregulation of tau phosphatases.

Methods

In a group of 729 Spanish late-onset Alzheimer's disease (AD) patients and 670 healthy controls, we examined variations into a set of candidate genes (PPP2CA, PPP2R2A, ANP32A, LCMT1, PPME1 and PIN1) in the tau protein phosphatase-2A (PP2A) pathway, to address hypotheses of genetic variation that might influence AD risk.

Results

There were no differences in the genotypic, allelic or haplotypic distributions between cases and controls in the overall analysis or after stratification by age, gender or APOE ε4 allele.

Conclusion

Our negative findings in the Spanish population argue against the hypothesis that genetic variation in the tau protein phosphatase-2A (PP2A) pathway is causally related to AD risk