Gene:
CHAT
choline O-acetyltransferase

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

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

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

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.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

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.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs11101191 1112-1359T>C, 1657656T>C, 41052T>C, 50853192T>C, 758-1359T>C, 866-1359T>C
T > C
Intronic
No VIP available No Clinical Annotations available VA
rs1880676 -68-431G>A, -90G>A, 11977G>A, 1628581G>A, 19G>A, 287-431G>A, 50824117G>A, Asp7Asn
G > A
Intronic
Asp7Asn
No VIP available No Clinical Annotations available VA
rs3793790 1111+4905G>A, 1645200G>A, 28596G>A, 50840736G>A, 757+4905G>A, 865+4905G>A
G > A
Intronic
No VIP available No Clinical Annotations available VA
rs3810950 112G>A, 12479G>A, 1629083G>A, 358G>A, 4G>A, 50824619G>A, Ala120Thr, Ala2Thr, Ala38Thr
G > A
Missense
Ala120Thr
No VIP available No Clinical Annotations available VA
rs4838547 1281-737T>C, 1389-737T>C, 1635-737T>C, 1666868T>C, 50264T>C, 50862404T>C
T > C
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA26448

Details

Cytogenetic Location: chr10 : q11.23 - q11.23
GP mRNA Boundary: chr10 : 50817141 - 50873150
GP Gene Boundary: chr10 : 50807141 - 50876150
Strand: plus
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. Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)
    Simplified diagram of a sympathetic neuronal junction displaying genes involved in neurotransmitter biosynthesis in response to neuronal stimulation.

External Pathways

Links to non-PharmGKB pathways.

  1. Acetylcholine Neurotransmitter Release Cycle - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
nicotine
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
olanzapine

Curated Information ?

Publications related to CHAT: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers. Human genetics. 2010. Wei Jinxue, 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
Identification of pharmacogenetic markers in smoking cessation therapy. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2008. Heitjan Daniel F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2007. Mancama D, 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 single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's disease. Pharmacogenetics and genomics. 2006. Harold Denise, 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
Relationships between cholinergic phenotype and acetyl-CoA level in hybrid murine neuroblastoma cells of septal origin. Journal of neuroscience research. 2003. Bielarczyk Hanna, et al. PubMed