Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon

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dc.contributor.authorMonte, Natasha
dc.contributor.authorRodrigues, Juliana Carla Gomes
dc.contributor.authorVinagre, Lui Wallacy Morikawa Souza
dc.contributor.authorPastana, Lucas Favacho
dc.contributor.authorAlcântara, Angélica Leite de
dc.contributor.authorLeitão, Luciana Pereira Colares
dc.contributor.authorSantos, André Maurício Ribeiro dos
dc.contributor.authorFernandes, Marianne Rodrigues
dc.contributor.authorSantos, Andrea Kely Campos Ribeiro dos
dc.contributor.authorGuerreiro, João Farias
dc.contributor.authorAssumpção, Paulo Pimentel
dc.contributor.authorSantos, Sidney
dc.contributor.authorSouza, Sandro José de
dc.contributor.authorSantos, Ney Pereira Carneiro dos
dc.date.accessioned2023-04-25T19:09:25Z
dc.date.available2023-04-25T19:09:25Z
dc.date.issued2023-03
dc.description.resumoAims: While lifestyle factors are strongly associated with Type 2 diabetes (T2DM), genetic characteristics also play a role. However, much of the research on T2DM genetics focuses on European and Asian populations, leaving underrepresented groups, such as indigenous populations with high diabetes prevalence, understudied. Methods: We characterized the molecular profile of 10 genes involved in T2DM risk through complete exome sequencing of 64 indigenous individuals belonging to 12 different Amazonian ethnic groups. Results: The analysis revealed 157 variants, including four exclusive variants in the indigenous population located in the NOTCH2 and WFS1 genes with a modifier or moderate impact on protein effectiveness. Furthermore, a high impact variant in NOTCH2 was also found. Additionally, the frequency of 10 variants in the indigenous group showed significant differences when compared to other global populations that were evaluated. Conclusion: Our study identified 4 novel variants associated with T2DM in the NOTCH2 and WFS1 genes in the Amazonian indigenous populations we studied. In addition, a variant with a high predicted impact in NOTCH2 was also observed. These findings represent a valuable starting point for conducting further association and functional studies, which could help to improve our understanding of the unique characteristics of this populationpt_BR
dc.identifier.citationMONTE, Natasha; RODRIGUES, Juliana Carla Gomes; VINAGRE, Lui Wallacy Morikawa Souza; PASTANA, Lucas Favacho; ALCÂNTARA, Angélica Leite de; LEITÃO, Luciana Pereira Colares; RIBEIRO-DOS-SANTOS, André Maurício; FERNANDES, Marianne Rodrigues; RIBEIRO-DOS-SANTOS, Ândrea; GUERREIRO, João Farias; GUERREIRO, Paulo Pimentel; SANTOS, Sidney; SOUZA, Sandro José de; SANTOS, Ney Pereira Carneiro dos. Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon. Diabetes Research And Clinical Practice, [S.l.], v. 199, p. 110641, mar. 2023. Doi: http://dx.doi.org/10.1016/j.diabres.2023.110641. Disponível em: https://www.sciencedirect.com/science/article/pii/S0168822723004011?via%3Dihub. Acesso em: 25 abr. 2023.pt_BR
dc.identifier.doi10.1016/j.diabres.2023.110641
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/52230
dc.languageenpt_BR
dc.publisherElsevier BVpt_BR
dc.rightsAtribuição-NãoComercial-SemDerivados 3.0 Brasil*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/br/*
dc.subjectExomept_BR
dc.subjectGenomicspt_BR
dc.subjectIndigenous populationspt_BR
dc.subjectT2DMpt_BR
dc.titleEpidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazonpt_BR
dc.typearticlept_BR

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