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

Aims: 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 pr...

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Published in:Diabetes research and clinical practice 2023-05, Vol.199, p.110641-110641, Article 110641
Main Authors: Monte, Natasha, Carla Gomes Rodrigues, Juliana, Wallacy Morikawa Souza Vinagre, Lui, Favacho Pastana, Lucas, Leite de Alcântara, Angélica, Pereira Colares Leitão, Luciana, Maurício Ribeiro-dos-Santos, André, Rodrigues Fernandes, Marianne, Ribeiro-dos-Santos, Ândrea, Farias Guerreiro, João, Pimentel Assumpção, Paulo, Santos, Sidney, José de Souza, Sandro, Pereira Carneiro dos Santos, Ney
Format: Article
Language:English
Subjects:
Brazil - epidemiology
Diabetes Mellitus, Type 2 - epidemiology
Diabetes Mellitus, Type 2 - genetics
Ethnicity
Exome
Genetic Predisposition to Disease
Genomics
Humans
Indigenous Peoples - genetics
Indigenous populations
T2DM
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Summary:Aims: 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 population.
ISSN:0168-8227
1872-8227
DOI:10.1016/j.diabres.2023.110641