Clinical pharmacology and therapeutics · 2025
PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.
СтатьяОбзорПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Papanikolaou Georgia, Poloni Estella S, Agúndez José A G, Teixeira Raquel L F, Boone Erin C, Rezende Santos Adalberto, Whirl-Carrillo Michelle, Sangkuhl Katrin, Klein Teri E, Habil Mariam R, Fakis Giannoulis, Minchin Rodney F, Hein David W, Boukouvala Sotiria, Gaedigk Andrea
Аннотация
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N-acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines. Systematic nomenclature describing NAT2 variation is essential for pharmacogenetic testing, genotype interpretation, and translation to phenotype in research and clinical settings. This GeneFocus provides an overview of NAT2 variation and describes important changes to its star allele-based nomenclature that were made as it was transitioned to PharmVar in March 2024. We also highlight and discuss challenges regarding the characterization of allelic variation and determination of allele frequencies across world populations. The "new" NAT2 PharmVar nomenclature is utilized by ClinPGx (formerly PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).