title: No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease.
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.
authors.affiliation: MRC Neurochemical Pathology Unit, Institute for the Health of the Elderly, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE UK. a.b.singleton@ncl.ac.uk
authors.forename: A B
authors.initials: AB
authors.lastname: Singleton
authors.forename: G
authors.initials: G
authors.lastname: Smith
authors.forename: A M
authors.initials: AM
authors.lastname: Gibson
authors.forename: R
authors.initials: R
authors.lastname: Woodward
authors.forename: R H
authors.initials: RH
authors.lastname: Perry
authors.forename: P G
authors.initials: PG
authors.lastname: Ince
authors.forename: J A
authors.initials: JA
authors.lastname: Edwardson
authors.forename: C M
authors.initials: CM
authors.lastname: Morris
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D001921:Brain; D002091:Butyrylcholinesterase / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D016874:Neurofibrillary Tangles; D058225:Plaque, Amyloid; D017354:Point Mutation; D011446:Prospective Studies
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D004247:DNA; D002091:Butyrylcholinesterase