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

doi:10.1002/cpt.2563

PharmVar GeneFocus: CYP3A5

Clin Pharmacol Ther. 2022 Dec;112(6):1159-1171. doi: 10.1002/cpt.2563. Epub 2022 Mar 29.

Authors

Cristina Rodriguez-Antona^{1

2}, Jessica L Savieo³, Volker M Lauschke^{4

5

6}, Katrin Sangkuhl⁷, Britt I Drögemöller^{8

9

10}, Danxin Wang¹¹, Ron H N van Schaik¹², Andrei A Gilep^{13

14}, Arul P Peter¹⁵, Erin C Boone¹⁶, Bronwyn E Ramey¹⁷, Teri E Klein⁷, Michelle Whirl-Carrillo⁷, Victoria M Pratt¹⁸, Andrea Gaedigk^{16

19}

Affiliations

¹ Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
² Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
³ Allen Institute for Cell Science, Seattle, Washington, USA.
⁴ Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
⁵ Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.
⁶ University of Tübingen, Tübingen, Germany.
⁷ Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
⁸ Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
⁹ CancerCare Manitoba Research Institute, Winnipeg, Manitoba, Canada.
¹⁰ Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.
¹¹ Department of Pharmacotherapy and Translational Research, University of Florida, Gainesville, Florida, USA.
¹² Department of Clinical Chemistry, Erasmus University Medical Center, Rotterdam, The Netherlands.
¹³ Institute of Bioorganic Chemistry, National Academy of Sciences of Belarus, Minsk, Belarus.
¹⁴ Institute of Biomedical Chemistry, Moscow, Russia.
¹⁵ Coriell Life Sciences, Philadelphia, Pennsylvania, USA.
¹⁶ Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri, USA.
¹⁷ Pharmacogenomics, Sema4, Stamford, Connecticut, USA.
¹⁸ Indiana University School of Medicine, Indianapolis, Indiana, USA.
¹⁹ School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.

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).

Publication types

Review
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural

MeSH terms

Cyclosporine
Cytochrome P-450 CYP3A* / genetics
Genotype
Humans
Immunosuppressive Agents / therapeutic use
Pharmacogenetics
Tacrolimus*

Substances

Cytochrome P-450 CYP3A
Tacrolimus
Immunosuppressive Agents
Cyclosporine
CYP3A5 protein, human

Abstract

Publication types

MeSH terms

Substances

Grants and funding