Molecular Dx Significance 5/10

PharmVar Updates CYP3A5 Nomenclature for Tacrolimus Dose Optimisation

This GeneFocus review summarises the PharmVar-standardised star allele nomenclature for CYP3A5, including allele retirements and updates. CYP3A5 variation is clinically important for tacrolimus metabolism in transplant recipients, where genotype-guided dosing can improve graft outcomes. The standardised nomenclature supports consistent laboratory reporting and integration with CPIC guidelines for immunosuppressant therapy.

The original study

PharmVar GeneFocus: CYP3A5.

Authors
Rodriguez-Antona C, Savieo JL, Lauschke VM, Sangkuhl K, Drögemöller BI, Wang D, et al.
Journal
Clinical pharmacology and therapeutics
Type
Journal Article, Review, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural
PMID
35202484
Read the original study →

Original abstract

The Pharmacogene Variation Consortium (PharmVar) catalogs star (*) allele nomenclature for the polymorphic human CYP3A5 gene. Genetic variation within the CYP3A5 gene locus impacts the metabolism of several clinically important drugs, including the immunosuppressants tacrolimus, sirolimus, cyclosporine, and the benzodiazepine midazolam. Variable CYP3A5 activity is of clinical importance regarding tacrolimus metabolism. This GeneFocus provides a CYP3A5 gene summary with a focus on aspects regarding standardized nomenclature. In addition, this review also summarizes recent changes and updates, including the retirement of several allelic variants and provides an overview of how PharmVar CYP3A5 star allele nomenclature is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).