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Genetic Diversity of Drug-Related Genes in Native Americans of the Bra | PGPM – Dove Medical Press

Posted: January 22, 2021 at 3:54 pm

Marianne Rodrigues Fernandes,1,2 Juliana Carla Gomes Rodrigues,1 Olalla Maroas,3 Ana Latorre-Pellicer,3,4 Raquel Cruz,5 Joo Farias Guerreiro,6 Rommel Mario Rodriguez Burbano,1,2 Paulo Pimentel de Assumpo,1 Andrea Ribeiro-dos-Santos,1,6 Sidney Emanuel Batista dos Santos,1,6 Angel Carracedo,3,5,7 Ney Pereira Carneiro dos Santos1

1Ncleo de Pesquisas em Oncologia, Universidade Federal do Par, Belm, Par, Brazil; 2Departamento de ensino e pesquisa, Hospital Ophir Loyola, Belm, Par, Brazil; 3Grupo de Medicina Xenmica, Centro Nacional de Genotipado (CEGEN-PRB3), Universidade de Santiago de Compostela, Santiago de Compostela, Espaa; 4Unidad de Gentica Clnica y Genmica Funcional, Departamento de Farmacologa-Fisiologa, Escuela de Medicina, Universidad de Zaragoza, IIS-Aragn, E-50009 Zaragoza, Espaa; 5Centro de Investigacin Biomdica en Enfermedades Raras (CIBERER), Grupo de Medicina Genmica, CIMUS, Universidad de Santiago de Compostela, Santiago de Compostela, Espaa; 6Laboratrio de Gentica Humana e Mdica, Universidade Federal do Par, Belm, Par, Brazil; 7Fundacin Pblica de Medicina Xenmica, Instituto de Investigacin Sanitaria de Santiago de Compostela (FIDIS), Universidade de Santiago de Compostela, Santiago de Compostela, Espaa

Correspondence: Ney Pereira Carneiro dos SantosHospital Universitrio Joo de Barros Barreto, Ncleo de Pesquisa em Oncologia, 2 Floor of the Unidade de Alta Complexidade em Oncologia. Av. Mundurucus, 4487, Guam, Belm 66073-005, PA, BrazilTel +55 (91) 99113-9221Email npcsantos.ufpa@gmail.com

Introduction: The genetic admixture of the Brazilian population has considerable relevance to the implementation of the principles of pharmacogenomics (PGx), as it may compromise the extrapolation of data obtained in more homogeneous world populations.Purpose: This study aims to investigate a panel of 117 polymorphisms in 35 pharmacogenes, which contains label recommendations or clinical evidence by international drug regulatory agencies, in Amazonian Native American populations, and compare the results obtained with continental population data from the 1000 Genomes Project Consortium.Patients and Methods: The study population is composed of 109 Native American individuals from three Brazilian Amazon groups. The genotyping of the PGx polymorphisms was performed by allelic discrimination using TaqMan OpenArray Genotyping with a panel of 120 customized assays on the QuantStudio 12K Flex Real-Time PCR System.Results: Statistical differences within the Native American populations were observed regarding both genotypes and phenotypes of some genes of the CYP family. The discriminant analysis of principal components (DAPCs) between the NAM group and the continental populations of the 1000 Genomes Project resulted in the clustering of the three Native American populations. Additionally, in general, the NAM group was determined to be closely situated between East Asia, America, and South Asia groups, which enabled us to infer a genetic similarity between these populations. The DAPC analysis further demonstrated that eight polymorphisms and six polymorphisms were more relevant in differentiating the NAM from the continental populations and the NAM populations among themselves, respectively.Conclusion: Some investigated polymorphisms show differences among world populations, particularly with populations of European origin, for whom precision medicine protocols are primarily designed. The accumulated knowledge regarding these variations may assist in the design of specific protocols for Native American populations and populations admixed with them.

Keywords: Native Americans, pharmacogenomics, polymorphisms, population, genetic admixture, Brazil

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Genetic Diversity of Drug-Related Genes in Native Americans of the Bra | PGPM - Dove Medical Press

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