Genetic variation in the tau protein phosphatase-2A pathway is not associated with Alzheimer's disease risk
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AuthorVázquez Higuera, José Luis; Mateo Fernández, José Ignacio; Sánchez Juan, Pascual; Rodríguez Rodríguez, Eloy; Pozueta, Ana; Calero Lara, Miguel; Dobato Ayuso, José Luis; Frank García, Ana; Valdivieso Amate, Fernando; Berciano Blanco, José Ángel; Bullido, María Jesús; Combarros Pascual, Onofre
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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