Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K)

Neurosci Lett. 1999 Jul 9;269(2):115-9. doi: 10.1016/s0304-3940(99)00426-7.


Butyrylcholinesterase (BCHE) is an enzyme expressed in most human tissues. Recently, an increased odds of carrying the K variant of BCHE (BCHE-K) was reported among Alzheimer disease (AD) cases as compared with controls. We tested our data set of 245 sporadic AD cases and 241 controls for an association between BCHE-K, APOE4, and AD using logistic regression and chi-square analyses. The sib transmission disequilibrium test (S-TDT) was also used to test for differences in BCHE-K allele frequencies between 163 discordant sib-pairs selected from multiplex AD families. No statistically significant differences were noted between BCHE-K case and control allele frequencies even after stratifying by APOE4 status. S-TDT analysis between the BCHE-K variant and AD was also not significant (P = 0.52). We conclude that BCHE-K is not a major genetic risk factor for AD in our study population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics
  • Butyrylcholinesterase / genetics*
  • Case-Control Studies
  • Female
  • Humans
  • Linkage Disequilibrium / genetics*
  • Male
  • Middle Aged
  • Nuclear Family
  • Odds Ratio
  • Pedigree


  • Apolipoproteins E
  • Butyrylcholinesterase