PharmVar GeneFocus: CYP2D6 Star Allele Nomenclature for the Most-Tested Pharmacogene
This GeneFocus reviews the PharmVar nomenclature for CYP2D6, the most polymorphic and clinically impactful cytochrome P450 gene, affecting the metabolism of codeine, tamoxifen, antidepressants, antipsychotics, and many other drugs. The highly complex locus includes gene deletions, duplications, and hybrid alleles that challenge genotyping accuracy. Standardised nomenclature is critical for laboratories to deliver consistent, clinically actionable CYP2D6 results.
The original study
PharmVar GeneFocus: CYP2D6.
- Authors
- Nofziger C, Turner AJ, Sangkuhl K, Whirl-Carrillo M, Agúndez JAG, Black JL, et al.
- Journal
- Clinical pharmacology and therapeutics
- Type
- Journal Article, Research Support, N.I.H., Extramural, Review
- PMID
- 31544239
Original abstract
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the metabolism of numerous drugs and, thus, can impact drug efficacy and safety. This GeneFocus provides a comprehensive overview and summary of CYP2D6 genetic variation and describes how the information provided by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).