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PharmVar GeneFocus: NAT2-Variación Genética y Nomenclatura Actualizada

Georgia Papanikolaou¹, Estella S Poloni², José A G Agúndez³

¹Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.

Clinical pharmacology and therapeutics

|December 23, 2025

Resumen

El Consorcio de Variación Farmacogenómica (PharmVar) actualizó la nomenclatura del gen N-acetiltransferasa 2 (NAT2) en marzo de 2024. Esta nomenclatura estandarizada es crucial para la precisión de las pruebas farmacogenéticas y la interpretación clínica del metabolismo de los fármacos.

Área de la Ciencia:

Farmacogenética
Genética
Metabolismo de fármacos

Sus antecedentes:

El gen humano N-acetiltransferasa 2 (NAT2) es altamente polimórfico.
NAT2 desempeña un papel clave en el metabolismo de diversos fármacos y carcinógenos.
Una nomenclatura sistemática para la variación de NAT2 es vital para las aplicaciones farmacogenéticas.

Objetivo del estudio:

Proporcionar una visión general de la variación genética de NAT2.
Describir la nomenclatura actualizada de NAT2 transferida a PharmVar.
Destacar los desafíos en la caracterización de la variación y las frecuencias alélicas de NAT2.

Principales métodos:

Revisión de los datos existentes de variación genética de NAT2.
Descripción de la transición de la nomenclatura de NAT2 a PharmVar.
Discusión de los desafíos en la caracterización de alelos y la determinación de frecuencias.

Principales resultados:

PharmVar ahora proporciona nomenclatura para NAT2.
Se realizaron cambios significativos en la nomenclatura basada en alelos estrella.
La nueva nomenclatura es adoptada por ClinPGx y CPIC.

Conclusiones:

La nomenclatura actualizada de NAT2 por PharmVar mejora la precisión de las pruebas farmacogenéticas.
La nomenclatura estandarizada facilita la traducción genotipo-fenotipo en entornos clínicos y de investigación.
Se necesitan esfuerzos continuos para abordar los desafíos en la caracterización de la variación alélica de NAT2 a nivel mundial.

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