Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E epsilon4

Neuroreport. 2001 Apr 17;12(5):905-9. doi: 10.1097/00001756-200104170-00008.


The tau gene has an important role in frontotemporal dementia (FTD) as pathogenic mutations have been found in hereditary forms of the disease. Furthermore, a certain extended tau haplotype has been shown to increase the risk for progressive supranuclear palsy, corticobasal degeneration, Parkinson's disease and, in interaction with the apolipoprotein E (apoE) epsilon4 allele, Alzheimer's disease. By microsatellite analysis we investigated an intronic tau polymorphism, in linkage disequilibrium with the extended tau haplotype, in FTD patients (n = 36) and healthy controls (n = 39). No association between any of the tau alleles/genotypes and FTD was seen, but certain tau alleles and apoE epsilon4 interactively increased the risk of FTD (p = 0.006). We thus propose that this extended tau haplotype in combination with apoE epsilon4 is a genetic risk factor for FTD.

MeSH terms

  • Aged
  • Apolipoprotein E4
  • Apolipoproteins E / genetics*
  • Dementia / genetics*
  • Dementia / pathology
  • Female
  • Frontal Lobe*
  • Genetic Linkage / genetics
  • Genotype
  • Humans
  • Male
  • Microsatellite Repeats
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length
  • Reverse Transcriptase Polymerase Chain Reaction
  • Risk Assessment
  • Temporal Lobe*
  • tau Proteins / genetics*


  • Apolipoprotein E4
  • Apolipoproteins E
  • tau Proteins