@article{10902/6218,
year = {2011},
url = {http://hdl.handle.net/10902/6218},
abstract = {Tau abnormal hyperphosphorylation and the formation of neurofibrillary tangles in Alzheimer´s disease (AD) brain is the result of upregulation of tau kinases. In a group of 729 Spanish late-onset AD patients and 670 healthy controls, we examined variations into a set of 20 candidate genes of kinases involved in tau phosphorylation at AD-related sites (PRKACB; CAMK2A; MARK1, 2, 3 and 4; CSNK1D; CDC2; RPS6KB1 and 2; p38α and β; IB1; JNK1, 2 and 3; MEK1 and 2; ERK1 and 2), to address hypotheses of genetic variation that might influence AD risk. There was an increased frequency of RPS6KB2 (intron 2, rs917570) minor allele in patients (50%) versus controls (39%) (OR = 1.52; 95% CI 1.30-1.77; p = 1.24×10−5 Bonferroni corrected), and the CDC2 AGC haplotype derived from SNPs in introns 3 (rs2448347), 5 (rs2456772), and 7 (rs1871447) showed a protective effect against AD in APOE ε4 allele noncarriers (permutation p = 1.0×10-4) with a frequency of 9% in cases and 15% in controls. Common genetic variation in the tau kinases pathway does underlie individual differences in susceptibility to AD.},
publisher = {IOS Press},
publisher = {Journal of Alzheimer's Disease. 2011;27(2):291-7},
title = {Genetic variation in the tau kinases pathway may contribute to the risk of Alzheimer´s disease},
author = {Vázquez Higuera, José Luis and Mateo Fernández, José Ignacio and Sánchez-Juan, Pascual and Rodríguez Rodríguez, Eloy Manuel and Pozueta, Ana and Calero Lara, Miguel and Dobato Ayuso, José Luis and Frank García, Ana and Valdivieso Amate, Fernando and Berciano, José Ángel and Bullido, María Jesús and Combarros Pascual, Onofre},
}