PharmVar GeneFocus: CYP2A6

Author:

Langlois Alec W.R.12ORCID,Chenoweth Meghan J.123ORCID,Twesigomwe David4ORCID,Scantamburlo Giada5ORCID,Whirl‐Carrillo Michelle6ORCID,Sangkuhl Katrin6ORCID,Klein Teri E.67ORCID,Nofziger Charity5ORCID,Tyndale Rachel F.123ORCID,Gaedigk Andrea89ORCID

Affiliation:

1. Department of Pharmacology & Toxicology University of Toronto Toronto Ontario Canada

2. Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto Ontario Canada

3. Department of Psychiatry University of Toronto Toronto Ontario Canada

4. Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa

5. PharmGenetix GmbH Niederalm Austria

6. Department of Biomedical Data Science Stanford University Stanford California USA

7. Departments of Medicine (BMIR) and Genetics Stanford University Stanford California USA

8. Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation Children's Mercy Research Institute (CMRI) Kansas City Missouri USA

9. School of Medicine University of Missouri‐Kansas City Kansas City Missouri USA

Abstract

The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the human CYP2A gene locus containing the highly polymorphic CYP2A6 gene. CYP2A6 plays a role in the metabolism of nicotine and various drugs. Thus, genetic variation can substantially contribute to the function of this enzyme and associated efficacy and safety. This GeneFocus provides an overview of the clinical significance of CYP2A6, including its genetic variation and function. We also highlight and discuss caveats in the identification and characterization of allelic variation of this complex pharmacogene, a prerequisite for accurate genotype determination and prediction of phenotype status.

Funder

Canadian Institutes of Health Research

National Institutes of Health

Publisher

Wiley

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