A polymorphism in the tau gene associated with risk for Alzheimer's disease

Neurosci Lett. 2000 Jan 7;278(1-2):49-52. doi: 10.1016/s0304-3940(99)00893-9.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Alleles
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Apolipoprotein E4
  • Apolipoproteins E / genetics
  • Binding Sites
  • Case-Control Studies
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Introns / genetics
  • Microtubules / metabolism
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Polymorphism, Genetic*
  • Risk Factors
  • tau Proteins / genetics*
  • tau Proteins / metabolism

Substances

  • Apolipoprotein E4
  • Apolipoproteins E
  • Nerve Tissue Proteins
  • tau Proteins