Navegando por Autor "Leitão, Luciana Pereira Colares"
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Artigo Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon(Elsevier BV, 2023-03) Monte, Natasha; Rodrigues, Juliana Carla Gomes; Vinagre, Lui Wallacy Morikawa Souza; Pastana, Lucas Favacho; Alcântara, Angélica Leite de; Leitão, Luciana Pereira Colares; Santos, André Maurício Ribeiro dos; Fernandes, Marianne Rodrigues; Santos, Andrea Kely Campos Ribeiro dos; Guerreiro, João Farias; Assumpção, Paulo Pimentel; Santos, Sidney; Souza, Sandro José de; Santos, Ney Pereira Carneiro dosAims: 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 populationArtigo Severe toxicities in amazonian populations and the role of precision medicine in acute lymphoblastic leukemia treatment(Springer Science and Business Media LLC, 2024-11) Leitão, Luciana Pereira Colares; Monte, Natasha; Rodrigues, Juliana Carla Gomes; Freitas, Lilian Marques de; Santos, André Mauricio Ribeiro dos; Santos, Andrea Kely Campos Ribeiro dos; Santos, Sidney; Souza, Sandro José de; Fernandes, Marianne Rodrigues; Santos, Ney Pereira Carneiro dosCorticosteroids, such as prednisone or dexamethasone, constitute integral components of antineoplastic regimens for Acute Lymphoblastic Leukemia (ALL) therapy, albeit accompanied by significant adverse effects. The multifactorial nature of interindividual variability in drug response, encompassing genetic polymorphisms, underscores the complexity of pharmacotherapy outcomes. However, pharmacogenetic investigations hitherto have predominantly focused on cohorts of European and North American descent, thus limiting the generalizability of findings to populations with minimal representation. Indigenous populations in Brazil, particularly those inhabiting the Amazon region, exhibit a distinctive genetic heritage, predominantly characterized by Native American ancestry. These populations frequently manifest suboptimal therapeutic responses and elevated mortality rates following ALL treatment. Therefore, delineating the molecular signatures of genes implicated in the corticosteroid pathway within these indigenous cohorts assumes paramount importance. This study identified novel variants within genes associated with the glucocorticoid pathway in indigenous Amazonian populations and conducted comparative analyses of variant frequencies across diverse global populations. The findings underscore the genetic uniqueness of indigenous groups and highlight the potential impact of genetic factors on adverse responses to ALL treatment. Precision medicine approaches tailored to the genetic peculiarities of indigenous populations emerge as imperative strategies for optimizing therapeutic efficacy and mitigating treatment-related toxicities in these communitiesArtigo The genomic profile associated with risk of severe forms of COVID-19 in amazonian native american populations(MDPI, 2022-04-01) Astana, Lucas Favacho; Silva, Thays Amâncio; Gellen, Laura Patrícia Albarello; Vieira, Giovana Miranda; Assunção, Letícia Almeida de; Leitão, Luciana Pereira Colares; Silva, Natasha Monte da; Coelho, Rita de Cássia Calderaro; Alcântara, Angélica Leite de; Vinagre, Lui Wallacy Morikawa Souza; Rodrigues, Juliana Carla Gomes; Leal, Diana Feio da Veiga Borges; Fernandes, Marianne Rodrigues Fernandes; Souza, Sandro José de; Kroll, José Eduardo; Santos, André Mauricio Riberio dos; Burbano, Rommel Mario Rodríguez Burbano; Guerreiro, João Farias; Assumpção, Paulo Pimentel de; Santos, Ândrea Campos Ribeiro dos; Santos, Sidney Emanuel Batista dos; Santos, Ney Pereira Carneiro dos.Genetic factors associated with COVID-19 disease outcomes are poorly understood. This study aimed to associate genetic variants in the SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6, XCR1, and ABO genes with the risk of severe forms of COVID-19 in Amazonian Native Americans, and to compare the frequencies with continental populations. The study population was composed of 64 Amerindians from the Amazon region of northern Brazil. The difference in frequencies between the populations was analyzed using Fisher’s exact test, and the results were significant when p ≤ 0.05. We investigated 64 polymorphisms in 7 genes; we studied 47 genetic variants that were new or had impact predictions of high, moderate, or modifier. We identified 15 polymorphisms with moderate impact prediction in 4 genes (ABO, CXCR6, FYCO1, and SLC6A20). Among the variants analyzed, 18 showed significant differences in allele frequency in the NAM population when compared to others. We reported two new genetic variants with modifier impact in the Amazonian population that could be studied to validate the possible associations with COVID-19 outcomes. The genomic profile of Amazonian Native Americans may be associated with protection from severe forms of COVID-19. This work provides genomic data that may help forthcoming studies to improve COVID-19 outcomes