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- Title
Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes.
- Authors
Cohen-Paes, Amanda de Nazaré; de Alcântara, Angélica Leite; Moreira, Fabiano Cordeiro; Fernandes, Marianne Rodrigues; Pantoja, Karla Beatriz Cardias Cereja; Carvalho, Darlen Cardoso de; Guerreiro, João Farias; Ribeiro-dos-Santos, Ândrea; Santos, Sidney Emanuel Batista dos; Assumpção, Paulo Pimentel de; Santos, Ney Pereira Carneiro dos
- Abstract
Native American populations from the Brazilian Amazon have a low genetic diversity and a different genetic profile when compared to people from other continents. Despite this, few studies have been conducted in this group, and there is no description of their genetic data in the various currently existent international databases. The characterization of the genomic profile of a population not only has an impact in studies of population genetics, but also helps to advance diagnostic and therapeutic response studies, leading to the optimization of clinical applicability. Genetic variations in DNA repair genes have been associated with the modulation of susceptibility to various pathologies, as well as in their prognosis and therapy. This is the first study to investigate DNA repair genes in Amerindians from the Brazilian Amazon region. We investigated 13 important DNA repair genes in the exome of 63 Native Americans, comparing our results with those found in 5 continental populations, whose data are available in the Genome Aggregation Database. Our results showed that 57 variants already described in literature were differentially distributed in the Amerindian populations in relation to the continental populations, 7 of which have significant clinical relevance. In addition, 9 new variants were described, suggesting that they are unique to these populations. Our study reinforces the understanding that the Amazonian Native American population presents a unique genetic profile, and our findings may collaborate with the creation of public policies that optimize the quality of life of these groups as well as the Brazilian population, which presents a high degree of interethnic mixing with Amerindian groups.
- Subjects
BRAZIL; GENETIC variation; INDIGENOUS peoples of the Americas; MOLECULAR epidemiology; POPULATION genetics; GENETIC profile; DNA repair
- Publication
Genes, 2022, Vol 13, Issue 10, pN.PAG
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes13101869