Homozygosity for the K variant of BCHE gene increases the risk for development of neurofibrillary pathology but not amyloid deposits at young ages

Acta Neuropathol. 2007 Oct;114(4):359-63. doi: 10.1007/s00401-007-0276-8. Epub 2007 Aug 16.

Abstract

The presence of the K variant of the butyrylcholinesterase gene (BCHE-K) has been associated with the severity of Alzheimer's disease (AD)-related neurofibrillary tangles (NFT) and amyloid beta-protein (Abeta). To examine the impact of BCHE-K on the development of initial NFT- and Abeta pathologies in young individuals below the age of 45 years a total of 124 cases (110 cases with NFT-only pathology, 14 cases with Abeta-only pathology) and 104 matched controls were genotyped for BCHE-K. Homozygosity for BCHE-K was highly overrepresented among NFT-only group (8.2%) compared with controls (1%, P = 0.02) or the Abeta-only group (0%). The prevalence of the K allele, however, was comparable among groups. These findings suggest that homozygosity, but not heterozygosity, for BCHE-K is a potential risk factor for the development of NFT pathology in young individuals implicating BCHE-K in the pathogenesis of early AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology*
  • Amyloid beta-Peptides
  • Apolipoproteins E / genetics
  • Butyrylcholinesterase / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Neurofibrillary Tangles / pathology*
  • Plaque, Amyloid / pathology*
  • Risk Factors

Substances

  • Amyloid beta-Peptides
  • Apolipoproteins E
  • Butyrylcholinesterase