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

• Main Authors: Berciano José, Valdivieso Fernando, Frank-García Ana, Dobato José L, Calero Miguel, Pozueta Ana, Rodríguez-Rodríguez Eloy, Sánchez-Juan Pascual, Mateo Ignacio, Vázquez-Higuera José L, Bullido Maria J, Combarros Onofre
• Format: Article
• Language: English
• Published: BMC 2011-09-01
• Series: BMC Research Notes
• Online Access: http://www.biomedcentral.com/1756-0500/4/327

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>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</p>