Determination of <i>NAT2</i> Genotypes in a Cohort of Patients with Suspected TB in the State of Rio de Janeiro

• Hauptverfasser: Cecília Alvim Dutra (VerfasserIn), Raquel Lima de Figueiredo Teixeira (VerfasserIn), Márcia Quinhones Pires Lopes (VerfasserIn), Victória de Moraes Silva (VerfasserIn), Philip Noel Suffys (VerfasserIn), Ricardo de Souza Carvalho (VerfasserIn), Adriana Rezende Moreira (VerfasserIn), Adalberto Rezende Santos (VerfasserIn), Afrânio Lineu Kritski (VerfasserIn)
• Format: Buch
• Veröffentlicht: MDPI AG, 2024-07-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.
• Notes: 10.3390/pharmaceutics16070917; 1999-4923
• Keywords: tuberculosis; single-nucleotide polymorphisms; pharmacogenetics; treatment; <i>NAT2</i>; Pharmacy and materia medica; RS1-441
• Source: Pharmaceutics, Vol 16, Iss 7, p 917 (2024)

The human N-acetyltransferase 2 enzyme, encoded by the <i>NAT2</i> gene, plays an important role in the metabolism of isoniazid, the main drug used to treat tuberculosis. The interindividual variation in the response of patients to drug treatment for tuberculosis may be responsible for the occurrence of unfavorable outcomes. The presence of polymorphisms in genes associated with the metabolism and transport of drugs, receptors, and therapeutic targets has been identified as a major determinant of this variability. The objective of this study was to identify the genetic profile of <i>NAT2</i> in the study population. Using the obtained genomic DNA followed by PCR amplification and sequencing, the frequency of nine SNPs as well as alleles associated with slow (47.9%), intermediate (38.7%), and fast acetylation phenotypes (11.3%), in addition to those whose phenotype has not yet been characterized (2.1%), was estimated. The <i>NAT2*5B</i> allele was identified more frequently (31.3%). The description of SNPs in pharmacogenes and the establishment of their relationship with the pharmacokinetics of an individual offer an individualized approach that allows us to reduce the unfavorable outcomes of a therapy, ensure better adherence to treatment, prevent the emergence of MDR strains, reduce the cost of treatment, and improve the quality of patients' lives.