Identification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazil

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dc.contributor.authorRodrigues, Juliana Carla Gomes
dc.contributor.authorSouza, Tatiane Piedade de
dc.contributor.authorPastana, Lucas Favacho
dc.contributor.authorSantos, André Maurício Ribeiro dos
dc.contributor.authorFernandes, Marianne Rodrigues
dc.contributor.authorPinto, Pablo
dc.contributor.authorWanderley, Alayde Vieira
dc.contributor.authorSouza, Sandro José de
dc.contributor.authorKroll, José Eduardo
dc.contributor.authorPereira, Adenilson Leão
dc.contributor.authorMagalhães, Leandro
dc.contributor.authorMercês, Laís Reis das
dc.contributor.authorVidal, Amanda Ferreira
dc.contributor.authorVinasco-Sandoval, Tatiana
dc.contributor.authorCavalcante, Giovanna Chaves
dc.contributor.authorGuerreiro, João Farias
dc.contributor.authorAssumpção, Paulo Pimentel de
dc.contributor.authorRibeiro-dos-Santos, Ândrea
dc.contributor.authorSantos, Sidney
dc.contributor.authorSantos, Ney Pereira Carneiro dos
dc.date.accessioned2020-04-20T19:12:24Z
dc.date.available2020-04-20T19:12:24Z
dc.date.issued2020-04-15
dc.description.resumoIntroduction The 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. Methods The 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. Results Four 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. Conclusion Our findings indicate that Amerindian and admixed populations from northern Brazil have high frequencies of the NUDT15 haplotypes that alter the metabolism profile of thiopurines.pt_BR
dc.identifier.citationRODRIGUES, J. C. G. et al. Identification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazil. PLoS One, [S. l.], v. 15, n. 4, p. e0231651, abr. 2020.pt_BR
dc.identifier.doi10.1371/journal.pone.0231651
dc.identifier.urihttps://repositorio.ufrn.br/jspui/handle/123456789/28820
dc.languageenpt_BR
dc.subjectNudix hydrolase 15 (NUDT15)pt_BR
dc.subjectMercaptopurinept_BR
dc.titleIdentification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazilpt_BR
dc.typearticlept_BR

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