PharmVar GeneFocus: CYP3A5

Cristina Rodriguez-Antona, Jessica L. Savieo, Volker M. Lauschke, Katrin Sangkuhl, Britt I. Drögemöller, Danxin Wang, Ron H.N. van Schaik, Andrei A. Gilep, Arul P. Peter, Erin C. Boone, Bronwyn E. Ramey, Teri E. Klein, Michelle Whirl-Carrillo, Victoria M. Pratt, Andrea Gaedigk*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

18 Citations (Scopus)
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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).

Original languageEnglish
Pages (from-to)1159-1171
Number of pages13
JournalClinical Pharmacology and Therapeutics
Volume112
Issue number6
Early online date24 Feb 2022
DOIs
Publication statusPublished - Dec 2022

Bibliographical note

Funding Information:
PharmVar is supported by the Children’s Mercy Research Institute. PharmGKB is supported by the National Institutes of Health (U24 HG010615; PI, T.E.K.) and D.W. by R35GM140845. V.M.L. acknowledges support from the Swedish Research Council (grant agreement numbers: 2016-01153, 2016-01154, and 2019-01837), the EU/EFPIA/OICR/McGill/KTH/Diamond Innovative Medicines Initiative 2 Joint Undertaking (EUbOPEN grant number 875510) and the Robert Bosch Foundation, Stuttgart, Germany. B.I.D. is supported by a Canadian Institute of Health Research Tier 2 Canada Research Chair in Pharmacogenomics and Precision Medicine. G.A.A. acknowledges support from the Russian Federation Fundamental Research Program for the long-term period for 2021–2030. V.M.P. acknowledges partial support from National Human Genome Research Institute (U01 HG010245). The authors would like to thank Dr. Yoshiro Saito of the National Institute of Health Sciences, Kawasaki, Japan, for his expertise and serving on the expert panel and Drs. Cyrine Haidar (St. Jude Children’s Research Hospital, Memphis, TN), Ann Moyer (Mayo Clinic, Rochester, MN), and Charity Nofziger (Pharmgenetix GmBH, Salzburg, Austria) for sharing genotype data and Drs. David Twesigomwe and Scott Hazelhurst (University of the Witwatersrand, Johannesburg, SA) for collaborating on CYP3A5*8 and submitting their data to PharmVar. [Correction added on 30 July 2022, after first online publication: In the Acknowledgments section, David Hazelhurst has been corrected to Scott Hazelhurst.]

Funding Information:
PharmVar is supported by the Children’s Mercy Research Institute. PharmGKB is supported by the National Institutes of Health (U24 HG010615; PI, T.E.K.) and D.W. by R35GM140845. V.M.L. acknowledges support from the Swedish Research Council (grant agreement numbers: 2016‐01153, 2016‐01154, and 2019‐01837), the EU/EFPIA/OICR/McGill/KTH/Diamond Innovative Medicines Initiative 2 Joint Undertaking (EUbOPEN grant number 875510) and the Robert Bosch Foundation, Stuttgart, Germany. B.I.D. is supported by a Canadian Institute of Health Research Tier 2 Canada Research Chair in Pharmacogenomics and Precision Medicine. G.A.A. acknowledges support from the Russian Federation Fundamental Research Program for the long‐term period for 2021–2030. V.M.P. acknowledges partial support from National Human Genome Research Institute (U01 HG010245).

Publisher Copyright:
© 2022 The Authors. Clinical Pharmacology & Therapeutics © 2022 American Society for Clinical Pharmacology and Therapeutics.

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