RESUMEN Objetivo: Relacionar los fenotipos acetiladores del gen NAT2 con la injuria hepática inducida por fármacos antituberculosos (IHIMA) en pacientes peruanos. Metodología: Se evaluó pacientes tuberculosos con y sin injuria hepática (30 en cada grupo) según criterio Drug-Induced Liver Injury Network (DILIN). Se empleó técnicas moleculares como RFLP, Secuenciamiento Sanger, NGS (Target sequencing y Exome sequencing) para registrar los diferentes genotipos de NAT2. El análisis bioinformático incluyó la anotación de variantes genéticas conocidas y nuevas con diversas herramientas de predicción clínico utilizando los programas VarScan, VEP, SnpEff y SnpSift. Resultados: Se evaluó las variantes rs1799929, rs1799930 y rs1799931 para definir fenotipos acetiladores del gen NAT2, encontrándose diferencias no significativas entre el grupo IHIMA (SA=43%, IA=43% y RA=14%) y No-IH...

Background: Tuberculosis (TB) is a highly prevalent chronic infectious disease in developing countries, with Peru being one of the most affected in the world. The variants in Nacetyltransferase 2 (NAT2) gene are related with xenobiotics metabolism and have potential for TB studies. Aim: Associate the NAT2 gene variants, acetylator phenotypes and active tuberculosis in Peruvians patients. Methods: The design was cases (TB patients) and controls (population-based data). First, DNA isolation, and the variants rs1799929, rs1799930, and rs1799931 of the NAT2 gene were determined with sequencing. The acetylator phenotypes: Slow (SA), intermediate (IA) and rapid (RA) too were analyzed. Results: The frequencies of the rs1799931 variant in the patients, respect controls, showed significant differences and they are risk, both for the A allele (p=0.00; OR = 3.04, 95% CI: 1.88- 4.9) and the AG genot...