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.
Pharmacogenomics and Tumor Biomarkers Group, Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM) CSIC/UAM, Madrid, Spain.
Clin Pharmacol Ther. 2024 Oct;116(4):963-975. doi: 10.1002/cpt.3405. Epub 2024 Aug 13.
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, CYP4F24 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.
Pharmacogene 变异联合会（PharmVar）作为一个全球性的存储库，为多态性人类 CYP4F2 基因提供星号（）等位基因命名法。CYP4F2 基因变异会影响维生素 K 的代谢，这与华法林剂量需求有关，还会影响药物（如伊马替尼或芬戈莫德）以及某些内源性化合物（如维生素 E 和类二十烷酸）的代谢。本基因焦点提供了 CYP4F2 基因变异的全面概述和总结，包括 14 个新的星号等位基因 CYP4F24 到*17 的特征描述。还介绍了 PharmVar 编目单倍型信息如何被 Pharmacogenomics Knowledgebase（PharmGKB）和 Clinical Pharmacogenetics Implementation Consortium（CPIC）利用。
