ArticlePloS one2020
Identification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazil.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 31 citations in OpenAlex.
- Comprehensive overview of the global pharmacogenetic and functional variability in NUDT15.Human genomics · 2026Review
- Genomic insights on lung cancer risk: identifying new variants in Amazonian indigenous populations.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Investigation of Pharmacogenomic Variants in the CYP (P450) Family in Native American Populations of the Brazilian Amazon.International journal of genomics · 2026Article
- Distribution ofFrontiers in pharmacology · 2026Article
- Prevalence of actionable pharmacogenomic variants in Brazilian patients with cancer.Frontiers in pharmacology · 2026Article
- Identification of genomic variants associated with colorectal cancer heredity in indigenous populations of the Amazon.Scientific reports · 2025Article
- Clinical Actionability of the NUDT15 *4 (p.R139H) Allele and Its Association With Hispanic Ethnicity.Clinical pharmacology and therapeutics · 2025Article
- Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients.Inflammatory bowel diseases · 2024Article
- Effect of American genomic ancestry on severe toxicities in children with acute lymphoblastic leukemia in the Amazon region.Discover oncology · 2024Article
- Molecular Profile of Important Genes for Radiogenomics in the Amazon Indigenous Population.Journal of personalized medicine · 2024Article
- Molecular Profile of Variants Potentially Associated with Severe Forms of COVID-19 in Amazonian Indigenous Populations.Viruses · 2024Article
- Article
- Variants ofGenes · 2023Article
- Molecular Profile of Variants inJournal of personalized medicine · 2023Article
- Article
- Mucin (MUC) Family Influence on Acute Lymphoblastic Leukemia in Cancer and Non-Cancer Native American Populations from the Brazilian Amazon.Journal of personalized medicine · 2022Article
- Article
- Pharmacogenomic Profile of Amazonian Amerindians.Journal of personalized medicine · 2022Article
- Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.Human genetics · 2022Review
- Identification of Genomic Variants Associated with the Risk of Acute Lymphoblastic Leukemia in Native Americans from Brazilian Amazonia.Journal of personalized medicine · 2022Article
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Authors and funding
20 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe nudix hydrolase 15 (NUDT15) gene acts in the metabolism of thiopurine, by catabolizing its active metabolite thioguanosine triphosphate into its inactivated form, thioguanosine monophosphate. The frequency of alternative NUDT15 alleles, in particular those that cause a drastic loss of gene function, varies widely among geographically distinct populations. In the general population of northern Brazilian, high toxicity rates (65%) have been recorded in patients treated with the standard protocol for acute lymphoblastic leukemia, which involves thiopurine-based drugs. The present study characterized the molecular profile of the coding region of the NUDT15 gene in two groups, non-admixed Amerindians and admixed individuals from the Amazon region of northern Brazil.
methodsThe entire NUDT15 gene was sequenced in 64 Amerindians from 12 Amazonian groups and 82 admixed individuals from northern Brazil. The DNA was extracted using phenol-chloroform. The exome libraries were prepared using the Nextera Rapid Capture Exome (Illumina) and SureSelect Human All Exon V6 (Agilent) kits. The allelic variants were annotated in the ViVa® (Viewer of Variants) software.
resultsFour NUDT15 variants were identified: rs374594155, rs1272632214, rs147390019, andrs116855232. The variants rs1272632214 and rs116855232 were in complete linkage disequilibrium, and were assigned to the NUDT15*2 genotype. These variants had high frequencies in both our study populations in comparison with other populations catalogued in the 1000 Genomes database. We also identified the NUDT15*4 haplotype in our study populations, at frequencies similar to those reported in other populations from around the world.
conclusionOur findings indicate that Amerindian and admixed populations from northern Brazil have high frequencies of the NUDT15 haplotypes that alter the metabolism profile of thiopurines.
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