• replaced


Clinical significance:no known pathogenicity (Last evaluated: May 24, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:

Allele description


BCHE:butyrylcholinesterase [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Preferred name:
Other names:
  • NC_000003.11:g.165491280C>T
  • NG_009031.1:g.68974G>A
  • NM_000055.2:c.1699G>A
  • NP_000046.1:p.Ala567Thr
Protein change:
A539T; ALA539THR
OMIM: 177400.0005; dbSNP: 1803274
0.1607, 1803274
NCBI 1000 Genomes Browser:
Allele Frequency:
0.1977, GO-ESP
Molecular consequence:
  • NM_000055.2:c.1699G>A - missense - [Sequence Ontology: SO:0001583]



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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000034369OMIMno known pathogenicity
(May 24, 2011)

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedcuration



E1k, another quantitative variant at cholinesterase locus 1.

Rubinstein HM, Dietz AA, Lubrano T.

J Med Genet. 1978 Feb;15(1):27-9.

PubMed [citation]

DNA mutations associated with the human butyrylcholinesterase J-variant.

Bartels CF, James K, La Du BN.

Am J Hum Genet. 1992 May;50(5):1104-14.

PubMed [citation]
See all PubMed Citations (7)

Details of each submission

From OMIM, SCV000034369.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (7)


The K variant of butyrylcholinesterase, named in honor of Werner Kalow, was first recognized through the use of dibucaine inhibition by Rubinstein et al. (1978). They found that the compound heterozygote for the atypical (A, or dibucaine-resistant) gene and the K gene, the AK individual, exhibited lower dibucaine inhibition that did the UA heterozygote (U = usual), because of a one-third reduction in BCHE activity produced by the K-variant allele. Bartels et al. (1992) found that the basis of the K-variant phenotype was a point mutation at nucleotide 1615 that changed codon 539 from GCA (ala) to ACA (thr). The allele produced a 30% reduction of serum butyrylcholinesterase activity. They estimated the frequency of the K-variant allele to be 0.128. They also found that the K-variant mutation was present in 17 of 19 BCHE genes containing the point mutation that causes the atypical phenotype, asp70-to-gly (177400.0001). Rubinstein et al. (1978) and Whittaker and Britten (1988) had estimated the homozygote frequency at 1:100, whereas Evans and Wardell (1984) had placed it somewhat higher, 1:76.

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.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 4, 2013