title: A polymorphism in the tau gene associated with risk for Alzheimer's disease.
abstract: Searching for tau genetic variations which could be associated with risk for Alzheimer's disease (AD), we have performed a mutational analysis of a region containing the whole exon 11 of the tau gene, which encodes a microtubule binding region critical for tau self-assembly, and we have found a biallelic polymorphism at position +34 of intron 11 (IVS11 + 34G/A). We have analyzed the allelic frequencies of this polymorphism in a case-control sample (167 clinically diagnosed AD and 194 controls) and found that the presence of any G allele (genotypes AG + GG) is associated with a five-fold AD risk in individuals carrying the apolipoprotein E4 allele, strongly suggesting that the combined effect of tau and apoE is relevant in relation with AD pathogenesis.
authors.affiliation: Departamento de Biología Molecular and Centro de Biología Molecular Severo Ochoa (C.S.I.C.-U.A.M.), Universidad Autónoma de Madrid, Cantoblanco, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Bullido
authors.forename: J
authors.initials: J
authors.lastname: Aldudo
authors.forename: A
authors.initials: A
authors.lastname: Frank
authors.forename: F
authors.initials: F
authors.lastname: Coria
authors.forename: J
authors.initials: J
authors.lastname: Avila
authors.forename: F
authors.initials: F
authors.lastname: Valdivieso
mesh_terms: D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D001665:Binding Sites; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008870:Microtubules / Q000378:metabolism; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D012307:Risk Factors; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D009419:Nerve Tissue Proteins; D016875:tau Proteins