PharmVar GeneFocus: CYP4F2

Author:

Zubiaur Pablo1ORCID,Rodríguez‐Antona Cristina23ORCID,Boone Erin C.4ORCID,Daly Ann K.5ORCID,Tsermpini Evangelia Eirini6ORCID,Khasawneh Lubna Q.7ORCID,Sangkuhl Katrin8ORCID,Duconge Jorge9ORCID,Botton Mariana R.1011ORCID,Savieo Jessica12ORCID,Nofziger Charity13ORCID,Whirl‐Carrillo Michelle8ORCID,Klein Teri E.814ORCID,Gaedigk Andrea415ORCID

Affiliation:

1. Clinical Pharmacology Department Hospital Universitario de La Princesa, Universidad Autónoma de Madrid (UAM) and Instituto de Investigación Sanitaria del Hospital Universitario de La Princesa (IP) Madrid Spain

2. Pharmacogenomics and Tumor Biomarkers Group Instituto de Investigaciones Biomédicas Sols‐Morreale (IIBM) CSIC/UAM Madrid Spain

3. Centro de Investigación Biomédica en Red de Enfermedades Raras Valencia Spain

4. Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation Children's Mercy Research Institute (CMRI) Kansas City Missouri USA

5. Translational & Clinical Research Institute, Newcastle University Newcastle upon Tyne UK

6. Department of Psychiatry Dalhousie University Halifax Nova Scotia Canada

7. Department of Genetics and Genomics, College of Medicine and Health Sciences United Arab Emirates University Al‐Ain UAE

8. Department of Biomedical Data Science Stanford University Stanford California USA

9. Department of Pharmaceutical Sciences, School of Pharmacy University of Puerto Rico ‐ Medical Sciences Campus San Juan Puerto Rico USA

10. Transplant Immunology and Personalized Medicine Unit Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

11. Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

12. Department of Clinical Operations AccessDx Houston Texas USA

13. PharmGenetix GmbH Niederalm Austria

14. Departments of Medicine (BMIR) and Genetics Stanford University Stanford California USA

15. School of Medicine University of Missouri‐Kansas City Kansas City Missouri USA

Abstract

The Pharmacogene Variation Consortium (PharmVar) serves as a global repository providing star (*) allele nomenclature for the polymorphic human CYP4F2 gene. CYP4F2 genetic variation impacts the metabolism of vitamin K, which is associated with warfarin dose requirements, and the metabolism of drugs, such as imatinib or fingolimod, and certain endogenous compounds including vitamin E and eicosanoids. This GeneFocus provides a comprehensive overview and summary of CYP4F2 genetic variation including the characterization of 14 novel star alleles, CYP4F2*4 through *17. A description of how haplotype information cataloged by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC) is also provided.

Funder

National Institute of General Medical Sciences

Österreichische Forschungsförderungsgesellschaft

Publisher

Wiley

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