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author Amorim, Gustavo
Jaworski, James
Yang, Jing
Cordeiro-Santos, Marcelo
Kritski, Afrânio L
Figueiredo, Marina C
Turner, Megan
Andrade, Bruno B
Velez Edwards, Digna R
Santos, Adalberto R
Rolla, Valeria C
Sterling, Timothy R
Haas, David W
author_facet Amorim, Gustavo
Jaworski, James
Yang, Jing
Cordeiro-Santos, Marcelo
Kritski, Afrânio L
Figueiredo, Marina C
Turner, Megan
Andrade, Bruno B
Velez Edwards, Digna R
Santos, Adalberto R
Rolla, Valeria C
Sterling, Timothy R
Haas, David W
Amorim, Gustavo
Jaworski, James
Yang, Jing
Cordeiro-Santos, Marcelo
Kritski, Afrânio L
Figueiredo, Marina C
Turner, Megan
Andrade, Bruno B
Velez Edwards, Digna R
Santos, Adalberto R
Rolla, Valeria C
Sterling, Timothy R
Haas, David W
collection PubMed - marine biology
contents Pharmacogenetics of tuberculosis treatment toxicity and effectiveness in a large Brazilian cohort. Amorim, Gustavo Jaworski, James Yang, Jing Cordeiro-Santos, Marcelo Kritski, Afrânio L Figueiredo, Marina C Turner, Megan Andrade, Bruno B Velez Edwards, Digna R Santos, Adalberto R Rolla, Valeria C Sterling, Timothy R Haas, David W Humans Antitubercular Agents Brazil Male Female Adult Arylamine N-Acetyltransferase Middle Aged Polymorphism, Single Nucleotide Tuberculosis, Pulmonary Glutathione Transferase Tuberculosis Pharmacogenetics Prospective Studies Cohort Studies Treatment Outcome Pregnane X Receptor Liver-Specific Organic Anion Transporter 1 Genetic polymorphisms have been associated with risk of antituberculosis treatment toxicity. We characterized associations with adverse events and treatment failure/recurrence among adults treated for tuberculosis in Brazil. Participants were followed in Regional Prospective Observational Research in Tuberculosis (RePORT)-Brazil. We included persons with culture-confirmed drug-susceptible pulmonary tuberculosis who started treatment between 2015 and 2019, and who were eligible for pharmacogenetics. Treatment included 2 months of isoniazid, rifampin or rifabutin, pyrazinamide, and ethambutol, then 4 months of isoniazid and rifampin or rifabutin, with 24-month follow-up. Analyses included 43 polymorphisms in 20 genes related to antituberculosis drug hepatotoxicity or pharmacokinetics. Whole exome sequencing was done in a case-control toxicity subset. Among 903 participants in multivariable genetic association analyses, NAT2 slow acetylator status was associated with increased risk of treatment-related grade 2 or greater adverse events, including hepatotoxicity. Treatment failure/recurrence was more likely among NAT2 rapid acetylators, but not statistically significant at the 5% level. A GSTM1 polymorphism (rs412543) was associated with increased risk of treatment-related adverse events, including hepatotoxicity. SLCO1B1 polymorphisms were associated with increased risk of treatment-related hepatoxicity and treatment failure/recurrence. Polymorphisms in NR1/2 were associated with decreased risk of adverse events and increased risk of failure/recurrence. In whole exome sequencing, hepatotoxicity was associated with a polymorphism in VTI1A , and the genes METTL17 and PRSS57 , but none achieved genome-wide significance. In a clinical cohort representing three regions of Brazil, NAT2 acetylator status was associated with risk for treatment-related adverse events. Additional significant polymorphisms merit investigation in larger study populations, particularly regarding risk of treatment failure/recurrence.
format Artículo científico
id pubmed_39470346
institution PubMed
language en
publishDate 2025
publisher Pharmacogenetics and genomics
record_format pubmed
spellingShingle Pharmacogenetics of tuberculosis treatment toxicity and effectiveness in a large Brazilian cohort.
Amorim, Gustavo
Jaworski, James
Yang, Jing
Cordeiro-Santos, Marcelo
Kritski, Afrânio L
Figueiredo, Marina C
Turner, Megan
Andrade, Bruno B
Velez Edwards, Digna R
Santos, Adalberto R
Rolla, Valeria C
Sterling, Timothy R
Haas, David W
Humans
Antitubercular Agents
Brazil
Male
Female
Adult
Arylamine N-Acetyltransferase
Middle Aged
Polymorphism, Single Nucleotide
Tuberculosis, Pulmonary
Glutathione Transferase
Tuberculosis
Pharmacogenetics
Prospective Studies
Cohort Studies
Treatment Outcome
Pregnane X Receptor
Liver-Specific Organic Anion Transporter 1
Pharmacogenetics of tuberculosis treatment toxicity and effectiveness in a large Brazilian cohort. Amorim, Gustavo Jaworski, James Yang, Jing Cordeiro-Santos, Marcelo Kritski, Afrânio L Figueiredo, Marina C Turner, Megan Andrade, Bruno B Velez Edwards, Digna R Santos, Adalberto R Rolla, Valeria C Sterling, Timothy R Haas, David W Humans Antitubercular Agents Brazil Male Female Adult Arylamine N-Acetyltransferase Middle Aged Polymorphism, Single Nucleotide Tuberculosis, Pulmonary Glutathione Transferase Tuberculosis Pharmacogenetics Prospective Studies Cohort Studies Treatment Outcome Pregnane X Receptor Liver-Specific Organic Anion Transporter 1 Genetic polymorphisms have been associated with risk of antituberculosis treatment toxicity. We characterized associations with adverse events and treatment failure/recurrence among adults treated for tuberculosis in Brazil. Participants were followed in Regional Prospective Observational Research in Tuberculosis (RePORT)-Brazil. We included persons with culture-confirmed drug-susceptible pulmonary tuberculosis who started treatment between 2015 and 2019, and who were eligible for pharmacogenetics. Treatment included 2 months of isoniazid, rifampin or rifabutin, pyrazinamide, and ethambutol, then 4 months of isoniazid and rifampin or rifabutin, with 24-month follow-up. Analyses included 43 polymorphisms in 20 genes related to antituberculosis drug hepatotoxicity or pharmacokinetics. Whole exome sequencing was done in a case-control toxicity subset. Among 903 participants in multivariable genetic association analyses, NAT2 slow acetylator status was associated with increased risk of treatment-related grade 2 or greater adverse events, including hepatotoxicity. Treatment failure/recurrence was more likely among NAT2 rapid acetylators, but not statistically significant at the 5% level. A GSTM1 polymorphism (rs412543) was associated with increased risk of treatment-related adverse events, including hepatotoxicity. SLCO1B1 polymorphisms were associated with increased risk of treatment-related hepatoxicity and treatment failure/recurrence. Polymorphisms in NR1/2 were associated with decreased risk of adverse events and increased risk of failure/recurrence. In whole exome sequencing, hepatotoxicity was associated with a polymorphism in VTI1A , and the genes METTL17 and PRSS57 , but none achieved genome-wide significance. In a clinical cohort representing three regions of Brazil, NAT2 acetylator status was associated with risk for treatment-related adverse events. Additional significant polymorphisms merit investigation in larger study populations, particularly regarding risk of treatment failure/recurrence.
title Pharmacogenetics of tuberculosis treatment toxicity and effectiveness in a large Brazilian cohort.
topic Humans
Antitubercular Agents
Brazil
Male
Female
Adult
Arylamine N-Acetyltransferase
Middle Aged
Polymorphism, Single Nucleotide
Tuberculosis, Pulmonary
Glutathione Transferase
Tuberculosis
Pharmacogenetics
Prospective Studies
Cohort Studies
Treatment Outcome
Pregnane X Receptor
Liver-Specific Organic Anion Transporter 1
url https://pubmed.ncbi.nlm.nih.gov/39470346/