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).
Citation
Rodriguez‐Antona, Cristina, Savieo, Jessica L., Lauschke, Volker M., Sangkuhl, Katrin, Drögemöller, Britt I., Wang, Danxin, Van Schaik, Ron H. N., Gilep, Andrei A., Peter, Arul P., Boone, Erin C., Ramey, Bronwyn E., Klein, Teri E., Whirl‐Carrillo, Michelle, Pratt, Victoria M., Gaedigk, Andrea, “PharmVar GeneFocus: CYP3A5,” Clinical Pharmacology & Therapeutics 112, 6(2022): 1159-1171, doi: 10.1002/cpt.2563