Human Molecular Genetics, Vol 7, 937-939, Copyright © 1998 by Oxford University Press
AB Singleton, G Smith, AM Gibson, R Woodward, RH Perry, PG Ince, JA Edwardson and CM Morris
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.
ARTICLES
No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease
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
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