Journal Article

Synergy Between the Genes for Butyrylcholinesterase K Variant and Apolipoprotein E4 in Late-Onset Confirmed Alzheimer's Disease

D. J. Lehmann, C. Johnston and A. D. Smith

in Human Molecular Genetics

Volume 6, issue 11, pages 1933-1936
Published in print October 1997 | ISSN: 0964-6906
Published online October 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.11.1933
Synergy Between the Genes for Butyrylcholinesterase K Variant and Apolipoprotein E4 in Late-Onset Confirmed Alzheimer's Disease

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The allelic frequency of the gene for the K variant of butyrylcholinesterase (BCHE-K) was 0.17 in 74 subjects with late-onset (age >65 years) histopathologically diagnosed Alzheimer's disease (AD), which was higher than the frequencies in 104 elderly control subjects (0.09), in 14 early-onset cases of confirmed AD (0.07) and in 29 confirmed cases of other dementia (0.10). The association of BCHE-K with late-onset AD was limited to carriers of the ε4 allele of the apolipoprotein E gene (APOE), among whom the presence of BCHE-K gave an odds ratio of confirmed late-onset AD of 6.9 (95% C.I. 1.65–29) in subjects >65 years and of 12.8 (1.9–86) in subjects >75 years. In APOE ε4 carriers over 75 years, only 1/22 controls, compared with 10/24 confirmed late-onset AD cases, had BCHE-K. We suggest that BCHE-K, or a nearby gene on chromosome 3, acts in synergy with APOE ε4 as a susceptibility gene for late-onset AD.

Journal Article.  2629 words.  Illustrated.

Subjects: Genetics and Genomics

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