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Risk_factor Report for: Late-onset Alzheimer disease

Alternative name(s)|
Mutation|1 mutation:
OMIM: |104300

(from OMIM) Lehmann et al. (1997) found that the allelic sequence of the gene for the K variant of butyrylcholinesterase was 0.17 in 74 subjects with late-onset Alzheimer disease (AD; 104300), 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, among whom the presence of BCHE-K gave an odds ratio of confirmed late-onset AD of 6.9 with a 95% confidence interval of 1.65 to 29 in subjects older than 65 years and of 12.8 (1.9 to 86) in subjects older than 75 years. In APOE epsilon-4 carriers over 75 years, only 1 in 22 controls, compared with 10 of 24 confirmed late-onset AD cases, had BCHE-K. Lehmann et al. (1997) suggested 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. Wiebusch et al. (1999) conducted a case-control study of 135 pathologically confirmed AD cases and 70 non-AD controls (age of death greater than or equal to 60 years) in whom they genotyped for APOE epsilon-4 (see 107741) and BCHE-K. The allelic frequency of BCHE-K was 0.13 in controls and 0.23 in cases, giving a carrier odds ratio of 2.1 (95% confidence interval (CI) 1.1-4.1) for BCHE-K in confirmed AD. In an older subsample of 27 controls and 89 AD cases with ages of death greater than or equal to 75 years, the carrier odds ratio increased to 4.5 (95% CI 1.4-15) for BCHE-K. The BCHE-K association with AD became even more prominent in carriers of APOE epsilon-4. Only 3 of 19 controls compared with 39 of 81 cases carried both, giving an odds ratio of 5.0 (95% CI 1.3-19) for BCHE-K carriers within APOE epsilon-4 carriers. The authors concluded that the BCHE-K polymorphism is a susceptibility factor for AD and enhances the AD risk from APOE epsilon-4 in an age-dependent manner. McIlroy et al. (2000) reported a case-control study of 175 individuals with late-onset AD and 187 age- and sex-matched controls from Northern Ireland. The presence of the BCHE K variant was found to be associated with an increased risk of AD (odds ratio = 3.50, 95% C.I. 2.20-6.07); this risk increased in subjects 75 years or older (odds ratio = 5.50, 95% C.I. 2.56-11.87). No evidence of synergy was found between BCHE K and APOE epsilon-4 in this population.

    Title: Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland
    McIlroy SP, Crawford VL, Dynan KB, McGleenon BM, Vahidassr MD, Lawson JT, Passmore AP
    Ref: Journal of Medical Genetics, 37:182, 2000 : PubMed


    Title: Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease
    Wiebusch H, Poirier J, Sevigny P, Schappert K
    Ref: Hum Genet, 104:158, 1999 : PubMed


    Title: DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites
    Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN
    Ref: American Journal of Human Genetics, 50:1086, 1992 : PubMed


    Title: Recognition of two new phenotypes segregating the E1k allele for plasma cholinesterase
    Whittaker M, Britten JJ
    Ref: Hum Hered, 38:233, 1988 : PubMed


    Title: On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population
    Evans RT, Wardell J
    Ref: Journal of Medical Genetics, 21:99, 1984 : PubMed


    Title: E1k, another quantitative variant at cholinesterase locus 1
    Rubinstein HM, Dietz AA, Lubrano T
    Ref: Journal of Medical Genetics, 15:27, 1978 : PubMed


    Title: Pseudo-cholinesterase
    Lehmann H, Silk E, Liddell J
    Ref: British Medical Bulletin, 17:230, 1961 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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