title: Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease.
abstract: 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 epsilon 4 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 epsilon 4 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 epsilon 4 as a susceptibility gene for late-onset AD.
authors.affiliation: Oxford Project to Investigate Memory and Ageing (OPTIMA), University Department of Pharmacology, UK.
authors.forename: D J
authors.initials: DJ
authors.lastname: Lehmann
authors.forename: C
authors.initials: C
authors.lastname: Johnston
authors.forename: A D
authors.initials: AD
authors.lastname: Smith
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics*; D002091:Butyrylcholinesterase / Q000235:genetics*; D014644:Genetic Variation; D005838:Genotype; D006801:Humans
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D002091:Butyrylcholinesterase