Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Centre for Addiction and Mental Health and Departments of Pharmacology & Toxicology, and Psychiatry, University of Toronto, Toronto, Canada.
Clin Pharmacol Ther. 2021 Jul;110(1):82-97. doi: 10.1002/cpt.2166. Epub 2021 Mar 11.
The Pharmacogene Variation Consortium (PharmVar) catalogs star (*) allele nomenclature for the polymorphic human CYP2B6 gene. Genetic variation within the CYP2B6 gene locus impacts the metabolism or bioactivation of clinically important drugs. Of particular importance are efficacy and safety concerns regarding: efavirenz, which is used for the treatment of HIV type-1 infection; methadone, a mainstay in the treatment of opioid use disorder and as an analgesic; ketamine, used as an antidepressant and analgesic; and bupropion, which is prescribed to treat depression and for smoking cessation. This GeneFocus provides a comprehensive overview and summary of CYP2B6 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Pharmacogene 变异联合会（PharmVar）为多态性人类 CYP2B6 基因编目星号（*）等位基因命名法。CYP2B6 基因座内的遗传变异会影响临床重要药物的代谢或生物活化。特别重要的是关于以下方面的疗效和安全性问题：依非韦伦，用于治疗 HIV 型-1 感染；美沙酮，是治疗阿片类药物使用障碍和作为镇痛药的主要药物；氯胺酮，用作抗抑郁药和镇痛药；以及安非他酮，用于治疗抑郁症和戒烟。本基因焦点提供了 CYP2B6 的全面概述和总结，并描述了 PharmVar 编目表型信息如何被 Pharmacogenomics Knowledgebase（PharmGKB）和 Clinical Pharmacogenetics Implementation Consortium（CPIC）利用。
