Gene:
BCHE
butyrylcholinesterase

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.


Annotated Labels

  1. FDA Label for succinylcholine and BCHE,CACNA1S,RYR1
  2. HCSC Label for succinylcholine and BCHE

last updated 09/01/2016

1. FDA Label for succinylcholine and BCHE,CACNA1S,RYR1

Actionable PGx
Full label available at DailyMed

Genes and/or phenotypes found in this label

  • Apnea
    • other, Warnings section, Pediatric use section, Adverse reactions section, Precautions section
    • source: U.S. Food and Drug Administration
  • Hyperkalemia
    • other, Boxed warning section, Contraindications section, Pediatric use section, Adverse reactions section, Warnings and precautions section
    • source: U.S. Food and Drug Administration
  • Malignant Hyperthermia
    • other, Boxed warning section, Contraindications section, Warnings section, Pediatric use section, Adverse reactions section
    • source: U.S. Food and Drug Administration
  • BCHE
    • other, Adverse reactions section, Warnings and precautions section
    • source: U.S. Food and Drug Administration


PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for BCHE

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
BCHE deficiency N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs104893684 NC_000003.11:g.165547818A>G, NC_000003.12:g.165830030A>G, NG_009031.1:g.12436T>C, NM_000055.2:c.1004T>C, NP_000046.1:p.Leu335Pro, XM_005247685.1:c.1127T>C, XP_005247742.1:p.Leu376Pro
A > G
SNP
L335P
No VIP available No Clinical Annotations available VA
rs1355534 NC_000003.11:g.165505857T>C, NC_000003.12:g.165788069T>C, NG_009031.1:g.54397A>G, NM_000055.2:c.1518-1758A>G, XM_005247685.1:c.1641-1758A>G, rs36152929, rs59339069
T > C
SNP
No VIP available CA VA
rs1799807 NC_000003.11:g.165548529T>C, NC_000003.12:g.165830741T>C, NG_009031.1:g.11725A>G, NM_000055.2:c.293A>G, NP_000046.1:p.Asp98Gly, XM_005247685.1:c.416A>G, XP_005247742.1:p.Asp139Gly, rs386545549, rs52796585, rs56541123
T > C
SNP
D98G
No VIP available CA VA
rs1803274 NC_000003.11:g.165491280C>T, NC_000003.12:g.165773492C>T, NG_009031.1:g.68974G>A, NM_000055.2:c.1699G>A, NP_000046.1:p.Ala567Thr, XM_005247685.1:c.1822G>A, XP_005247742.1:p.Ala608Thr, rs17713328, rs17846898, rs3773869, rs52816414, rs60242395
C > T
SNP
A567T
No VIP available CA VA
rs28933389 NC_000003.11:g.165548010G>A, NC_000003.12:g.165830222G>A, NG_009031.1:g.12244C>T, NM_000055.2:c.812C>T, NP_000046.1:p.Thr271Met, XM_005247685.1:c.935C>T, XP_005247742.1:p.Thr312Met
G > A
SNP
T271M
No VIP available CA VA
rs28933390 NC_000003.11:g.165547569C>A, NC_000003.12:g.165829781C>A, NG_009031.1:g.12685G>T, NM_000055.2:c.1253G>T, NP_000046.1:p.Gly418Val, XM_005247685.1:c.1376G>T, XP_005247742.1:p.Gly459Val
C > A
SNP
G418V
No VIP available No Clinical Annotations available VA
rs4263329 NC_000003.11:g.165539610G>A, NC_000003.12:g.165821822G>A, NG_009031.1:g.20644C>T, NM_000055.2:c.1517+7695C>T, XM_005247685.1:c.1640+7695C>T, rs58195486
G > A
SNP
No VIP available No Clinical Annotations available VA
rs4680662 NC_000003.11:g.165516550A>G, NC_000003.12:g.165798762A>G, NG_009031.1:g.43704T>C, NM_000055.2:c.1518-12451T>C, XM_005247685.1:c.1641-12451T>C, rs13084030
A > G
SNP
No VIP available No Clinical Annotations available VA
rs755648929
A > G
SNP
W518R
No VIP available No Clinical Annotations available VA
rs772583466
C > T
SNP
G467S
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  CHE1; CHE2
Alternate Symbols:  E1
PharmGKB Accession Id: PA25294

Details

Cytogenetic Location: chr3 : q26.1 - q26.2
GP mRNA Boundary: chr3 : 165490692 - 165555260
GP Gene Boundary: chr3 : 165487692 - 165565260
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Irinotecan Pathway, Pharmacodynamics
    Model non-tissue specific cancer cell displaying genes which may be involved in the irinotecan pathway.
  1. Irinotecan Pathway, Pharmacokinetics
    Model human liver cell showing blood, bile and intestinal compartments, indicating tissue specific involvement of genes in the irinotecan pathway.
No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Anticholinesterases

Curated Information ?

Publications related to BCHE: 30

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene. Pharmacogenetics and genomics. 2016. Wichmann Sine, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics. Pharmacogenetics and genomics. 2015. Alvarellos Maria L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Effect of Rivastigmine or Memantine Add-on Therapy Is Affected by Butyrylcholinesterase Genotype in Patients with Probable Alzheimer's Disease. European neurology. 2014. Han Hyun Jeong, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The allele frequency of T920C mutation in butyrylcholinesterase gene is high in an Indian population. Gene. 2014. David Swapna Merlin, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium. PloS one. 2014. Delacour Herve, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Butyrylcholinesterase genetic variants: association with cocaine dependence and related phenotypes. PloS one. 2013. Negrão André Brooking, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. American journal of clinical pathology. 2011. Parnas M Laura, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. Acta anaesthesiologica Scandinavica. 2011. Mollerup H M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine. Genetics and molecular biology. 2011. Garcia Daniel Fantozzi, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Prolonged apnea during electroconvulsive therapy in monozygotic twins: case reports. Annals of general psychiatry. 2011. Zavorotnyy Maxim, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effect of apolipoprotein E and butyrylcholinesterase genotypes on cognitive response to cholinesterase inhibitor treatment at different stages of Alzheimer's disease. The pharmacogenomics journal. 2010. Patterson C E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Single nucleotide polymorphism in ABCG2 is associated with irinotecan-induced severe myelosuppression. Journal of human genetics. 2009. Cha Pei-Chieng, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Progression from mild cognitive impairment to Alzheimer's disease: effects of sex, butyrylcholinesterase genotype, and rivastigmine treatment. Pharmacogenetics and genomics. 2009. Ferris Steven, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2009. Scacchi Renato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Synergistic effect of apolipoprotein E epsilon4 and butyrylcholinesterase K-variant on progression from mild cognitive impairment to Alzheimer's disease. Pharmacogenetics and genomics. 2008. Lane Roger, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population. Pharmacogenetics and genomics. 2008. Mikami Liya R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacokinetics and pharmacodynamics of the novel daily rivastigmine transdermal patch compared with twice-daily capsules in Alzheimer's disease patients. Clinical pharmacology and therapeutics. 2008. Lefèvre G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. Pharmacogenetics and genomics. 2007. Gätke Mona R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. American journal of human genetics. 2007. Liu Fan, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Effect of butyrylcholinesterase genotype on the response to rivastigmine or donepezil in younger patients with Alzheimer's disease. Pharmacogenetics and genomics. 2006. Blesa Rafael, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. Pharmacogenetics and genomics. 2006. Manoharan Indumathi, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. Anesthesiology. 2005. Levano Soledad, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clinical chemistry. 2003. Yen Tina, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study. Pharmacogenetics. 2003. Lando Giuliana, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Regulation of attention and response to therapy in dementia by butyrylcholinesterase. Pharmacogenetics. 2003. O'Brien Kirsty K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Galantamine--a novel cholinergic drug with a unique dual mode of action for the treatment of patients with Alzheimer's disease. CNS drug reviews. 2002. Lilienfeld Sean. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The anticancer prodrug CPT-11 is a potent inhibitor of acetylcholinesterase but is rapidly catalyzed to SN-38 by butyrylcholinesterase. Cancer research. 1999. Morton C L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. American journal of human genetics. 1992. Nogueira C P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variants of human serum cholinesterase influence metabolism of the muscle relaxant succinylcholine. Pharmacology & therapeutics. 1990. Lockridge O. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. Proceedings of the National Academy of Sciences of the United States of America. 1989. McGuire M C, et al. PubMed

LinkOuts

NCBI Gene:
590
OMIM:
177400
UCSC Genome Browser:
NM_000055
RefSeq RNA:
NM_000055
RefSeq Protein:
NP_000046
RefSeq DNA:
NG_009031
NT_005612
UniProtKB:
CHLE_HUMAN (P06276)
Ensembl:
ENSG00000114200
GenAtlas:
BCHE
GeneCard:
BCHE
MutDB:
BCHE
ALFRED:
LO011426O
HuGE:
BCHE
Comparative Toxicogenomics Database:
590
ModBase:
P06276
HumanCyc Gene:
HS03747
HGNC:
983

Common Searches