No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease

Hum Mol Genet. 1998 May;7(5):937-9. doi: 10.1093/hmg/7.5.937.

Abstract

The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population. We therefore genotyped a large series of pathologically confirmed AD patients and controls to confirm this association. We found no change in the frequency of this genetic variant, either in the AD group as a whole or in early- or late-onset patients when compared with age-matched controls. Stratification of these groups with reference to the APO E epsilon4 allele also showed no difference between AD and control groups. To determine if a biological effect were present, we also looked at senile plaque and neurofibrillary tangle densities in the frontal, temporal, parietal and occipital cortices in AD patients either carrying or not carrying a copy of the K variant. We found no difference in plaque or tangle load between these two groups in either the total, late-onset or early-onset AD subjects. Stratification of the total AD group in terms of APO E epsilon4 allele possession, and further comparison of plaque and tangle load between carriers and non-carriers of BCHE-K still failed to disclose a relationship between BCHE-K and AD. We conclude that in the population studied here there is no association between BCHE-K and AD, or that if such a relationship exists it is precluded by another, as yet unknown factor.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alleles
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology*
  • Apolipoprotein E4
  • Apolipoproteins E / genetics
  • Brain
  • Butyrylcholinesterase / genetics*
  • DNA / analysis
  • Gene Frequency
  • Genetic Linkage
  • Genotype
  • Humans
  • Middle Aged
  • Neurofibrillary Tangles
  • Plaque, Amyloid
  • Point Mutation
  • Prospective Studies

Substances

  • Apolipoprotein E4
  • Apolipoproteins E
  • DNA
  • Butyrylcholinesterase