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

Janet M. Grubber, Ann M. Saunders, Alison R. Crane-Gatherum, William K. Scott, Eden R. Martin, Carol S. Haynes, P. M. Conneally, Gary W. Small, Allen D. Roses, Jonathan L. Haines, Margaret A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)115-119
Number of pages5
JournalNeuroscience Letters
Issue number2
StatePublished - Jul 9 1999
Externally publishedYes


  • Alzheimer disease
  • Apolipoprotein E
  • Association
  • Butyrylcholinesterase gene
  • Linkage disequilibrium
  • Transmission disequilibrium test

ASJC Scopus subject areas

  • Neuroscience(all)


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