Pharmacogenomic Profile of Amazonian Amerindians

dc.contributor.authorRodrigues, Juliana Carla Gomes
dc.contributor.authorFernandes, Marianne Rodrigues
dc.contributor.authorRibeiro-dos-Santos, André Maurício
dc.contributor.authorAraújo, Gilderlanio Santana de
dc.contributor.authorSouza, Sandro José de
dc.contributor.authorGuerreiro, João Farias
dc.contributor.authorRibeiro-dos-Santos, Ândrea
dc.contributor.authorAssumpção, Paulo Pimentel de
dc.contributor.authorSantos, Ney Pereira Carneiro dos
dc.contributor.authorSantos, Sidney
dc.date.accessioned2022-06-24T13:20:33Z
dc.date.available2022-06-24T13:20:33Z
dc.date.issued2022-06-10
dc.description.resumoGiven the role of pharmacogenomics in the large variability observed in drug efficacy/safety, an assessment about the pharmacogenomic profile of patients prior to drug prescription or dose adjustment is paramount to improve adherence to treatment and prevent adverse drug reaction events. A population commonly underrepresented in pharmacogenomic studies is the Native American populations, which have a unique genetic profile due to a long process of geographic isolation and other genetic and evolutionary processes. Here, we describe the pharmacogenetic variability of Native American populations regarding 160 pharmacogenes involved in absorption, distribution, metabolism, and excretion processes and biological pathways of different therapies. Data were obtained through complete exome sequencing of individuals from 12 different Amerindian groups of the Brazilian Amazon. The study reports a total of 3311 variants; of this, 167 are exclusive to Amerindian populations, and 1183 are located in coding regions. Among these new variants, we found non-synonymous coding variants in the DPYD and the IFNL4 genes and variants with high allelic frequencies in intronic regions of the MTHFR, TYMS, GSTT1, and CYP2D6 genes. Additionally, 332 variants with either high or moderate (disruptive or non-disruptive impact in protein effectiveness, respectively) significance were found with a minimum of 1% frequency in the Amazonian Amerindian population. The data reported here serve as scientific basis for future design of specific treatment protocols for Amazonian Amerindian populations as well as for populations admixed with them, such as the Northern Brazilian populationpt_BR
dc.identifier.citationRODRIGUES, Juliana; FERNANDES, Marianne; RIBEIRO-DOS-SANTOS, André; ARAÚJO, Gilderlanio; SOUZA, Sandro José de; GUERREIRO, João; RIBEIRO-DOS-SANTOS, Ândrea; ASSUMPÇÃO, Paulo; SANTOS, Ney; SANTOS, Sidney. Pharmacogenomic Profile of Amazonian Amerindians. Journal of Personalized Medicine, Nova Iorque (Estados Unidos), v. 12, n. 6, p. 952, jun. 2022. Disponível em: https://www.mdpi.com/2075-4426/12/6/952/htm. Acesso em: 23 jun. 2022.pt_BR
dc.identifier.doihttps://doi.org/10.3390/jpm12060952
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/48276
dc.languageenpt_BR
dc.publisherMDPI AGpt_BR
dc.rightsAttribution 3.0 Brazil*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/br/*
dc.subjectNative Americanpt_BR
dc.subjectPharmacogeneticspt_BR
dc.subjectExome sequencingpt_BR
dc.subjectPharmacogenespt_BR
dc.subjectPrecision medicinept_BR
dc.titlePharmacogenomic Profile of Amazonian Amerindianspt_BR
dc.typearticlept_BR

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