title: Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K).
abstract: 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.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Grubber
authors.forename: A M
authors.initials: AM
authors.lastname: Saunders
authors.forename: A R
authors.initials: AR
authors.lastname: Crane-Gatherum
authors.forename: W K
authors.initials: WK
authors.lastname: Scott
authors.forename: E R
authors.initials: ER
authors.lastname: Martin
authors.forename: C S
authors.initials: CS
authors.lastname: Haynes
authors.forename: P M
authors.initials: PM
authors.lastname: Conneally
authors.forename: G W
authors.initials: GW
authors.lastname: Small
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D002091:Butyrylcholinesterase / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D016017:Odds Ratio; D010375:Pedigree
chemical_list: D001057:Apolipoproteins E; D002091:Butyrylcholinesterase