Journal Article

No Association Between the K Variant of the Butyrylcholinesterase Gene and Pathologically Confirmed Alzheimer's Disease

Andrew B. Singleton, Graeme Smith, Alison M. Gibson, Rebecca Woodward, Robert H. Perry, Paul G. Ince, James A. Edwardson and Christopher M. Morris

in Human Molecular Genetics

Volume 7, issue 5, pages 937-939
Published in print May 1998 | ISSN: 0964-6906
Published online May 1998 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/7.5.937
No Association Between the K Variant of the Butyrylcholinesterase Gene and Pathologically Confirmed Alzheimer's Disease

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The polymorphic K variant of the butyrylcholinesterase (BCHE-K) gene recently has been demonstrated to have an elevated frequency in Alzheimer' disease (AD) patients carrying the ε4 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 ε4 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 ε4 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.

Journal Article.  1889 words.  Illustrated.

Subjects: Genetics and Genomics

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