Neurofibrillary tangles, one of the characteristic neuropathological lesions found in Alzheimer's disease (AD) brains, are composed of abnormally hyperphosphorylated tau protein. Tau-tubulin kinase-1 (TTBK1) is a brain-specific protein kinase involved in tau phosphorylation at AD-related sites. We examined genetic variations of TTBK1 by genotyping nine haplotype tagging SNPs (htSNPs) (rs2104142, rs2651206, rs10807287, rs7764257, rs3800294, rs1995300, rs2756173, rs6936397, and rs6458330) in a group of 645 Spanish late-onset AD patients and 738 healthy controls. Using a recessive genetic model, minor allele homozygotes for rs2651206 in intron 1 (OR = 0.50, p= 0.0003), rs10807287 in intron 5 (OR = 0.49, p= 0.0002), and rs7764257 in intron 9 (OR = 0.57, p= 0.023), which are in strong linkage disequilibrium, had a lower risk of developing AD than subjects homozygotes and heterozygotes for the major allele. TTBK1 is a promising new candidate tau phosphorylation-related gene for AD risk. © 2010 Elsevier Inc.
CITATION STYLE
Vázquez-Higuera, J. L., Martínez-García, A., Sánchez-Juan, P., Rodríguez-Rodríguez, E., Mateo, I., Pozueta, A., … Combarros, O. (2011). Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer’s disease in a Spanish case-control cohort. Neurobiology of Aging, 32(3), 550.e5-550.e9. https://doi.org/10.1016/j.neurobiolaging.2009.12.021
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