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

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Author(s): Vázquez-Higuera José | Mateo Ignacio | Sánchez-Juan Pascual | Rodríguez-Rodríguez Eloy | Pozueta Ana | Calero Miguel | Dobato José | Frank-García Ana | Valdivieso Fernando | Berciano José | Bullido Maria | Combarros Onofre

Journal: BMC Research Notes
ISSN 1756-0500

Volume: 4;
Issue: 1;
Start page: 327;
Date: 2011;
Original page

ABSTRACT
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
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