Navegando por Autor "Santos, Andrea Kely Campos Ribeiro dos"

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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 dos
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
Incidence of hereditary gastric cancer may be much higher than reported
(MDPI AG, 2022-12) Assumpção, Paula Baraúna de; Assumpção, Paulo Pimentel de; Moreira, Fabiano Cordeiro; Santos, Andrea Kely Campos Ribeiro dos; Vidal, Amanda Ferreira; Magalhães, Leandro; Khayat, André Salim; Santos, André Mauricio Ribeiro dos; Cavalcante, Giovanna Chaves; Pereira, Adenilson Leão; Medeiros, Inácio Gomes; Souza, Sandro José de; Burbano, Rommel Mario Rodríguez; Souza, Jorge Estefano Santana de; Santos, Sidney Emanuel Batista dos
Hereditary gastric cancers (HGCs) are supposed to be rare and difficult to identify. Nonetheless, many cases of young patients with gastric cancer (GC) fulfill the clinical criteria for considering this diagnosis but do not present the defined pathogenic mutations necessary to meet a formal diagnosis of HGC. Moreover, GC in young people is a challenging medical situation due to the usual aggressiveness of such cases and the potential risk for their relatives when related to a germline variant. Aiming to identify additional germline alterations that might contribute to the early onset of GC, a complete exome sequence of blood samples from 95 GC patients under 50 and 94 blood samples from non-cancer patients was performed and compared in this study. The number of identified germline mutations in GC patients was found to be much higher than that from individuals without a cancer diagnosis. Specifically, the number of high functional impact mutations, including those affecting genes involved in medical diseases, cancer hallmark genes, and DNA replication and repair processes, was much higher, strengthening the hypothesis of the potential causal role of such mutations in hereditary cancers. Conversely, classically related HGC mutations were not found and the number of mutations in genes in the CDH1 pathway was not found to be relevant among the young GC patients, reinforcing the hypothesis that existing alternative germline contributions favor the early onset of GC. The LILRB1 gene variants, absent in the world's cancer datasets but present in high frequencies among the studied GC patients, may represent essential cancer variants specific to the Amerindian ancestry's contributions. Identifying non-reported GC variants, potentially originating from under-studied populations, may pave the way for additional discoveries and translations to clinical interventions for GC management. The newly proposed approaches may reduce the discrepancy between clinically suspected and molecularly proven hereditary GC and shed light on similar inconsistencies among other cancer types. Additionally, the results of this study may support the development of new blood tests for evaluating cancer risk that can be used in clinical practice, helping physicians make decisions about strategies for surveillance and risk-reduction interventions
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations
(MDPI AG, 2023-09) Aguiar, Kaio Evandro Cardoso; Oliveira, Izabela De Sousa; Paes, Amanda de Nazaré Cohen; Coelho, Rita de Cássia Calderaro; Vinagre, Lui Wallacy Morikawa Souza; Rodrigues, Juliana Carla Gomes; Santos, André Mauricio Ribeiro dos; Souza, Sandro José de; Santos, Andrea Kely Campos Ribeiro dos; Guerreiro, João Farias; Assumpção, Paulo Pimentel de; Santos, Sidney Emanuel Batista dos; Santos, Ney Pereira Carneiro dos; Fernandes, Marianne Rodrigues
Gastric Cancer is a disease associated with environmental and genetic changes, becoming one of the most prevalent cancers around the world and with a high incidence in Brazil. However, despite being a highly studied neoplastic type, few efforts are aimed at populations with a unique background and genetic profile, such as the indigenous peoples of the Brazilian Amazon. Our study characterized the molecular profile of five genes associated with the risk of developing gastric cancer by sequencing the complete exome of 64 indigenous individuals belonging to 12 different indigenous populations in the Amazon. The analysis of the five genes found a total of 207 variants, of which 15 are new in our indigenous population, and among these are two with predicted high impact, present in the TTN and CDH1 genes. In addition, at least 20 variants showed a significant difference in the indigenous population in comparison with other world populations, and three are already associatively related to some type of cancer. Our study reaffirms the unique genetic profile of the indigenous population of the Brazilian Amazon and allows us to contribute to the conception of early diagnosis of complex diseases such as cancer, improving the quality of life of individuals potentially suffering from the disease
Molecular profile of variants potentially associated with severe forms of COVID-19 in Amazonian indigenous populations
(MDPI AG, 2024-02) Coelho, Rita de Cássia Calderaro; Martins, Carlliane Lima e Lins Pinto; Pastana, Lucas Favacho; Rodrigues, Juliana Carla Gomes; Aguiar, Kaio Evandro Cardoso; Paes, Amanda de Nazaré Cohen; Gellen, Laura Patrícia Albarello; Moraes, Francisco Cezar Aquino de; Calderaro, Maria Clara Leite; Assunção, Letícia Almeida de; Silva, Natasha Monte da; Pereira, Esdras Edgar Batista; Santos, André Mauricio Ribeiro dos; Santos, Andrea Kely Campos Ribeiro dos; Burbano, Rommel Mario Rodriguez; Souza, Sandro José de; Guerreiro, João Farias; Assumpção, Paulo Pimentel de; Santos, Sidney Emanuel Batista dos; Fernandes, Marianne Rodrigues; Santos, Ney Pereira Carneiro dos
Coronavirus disease 2019 (COVID-19) is an infection caused by SARS-CoV-2. Genome-wide association studies (GWASs) have suggested a strong association of genetic factors with the severity of the disease. However, many of these studies have been completed in European populations, and little is known about the genetic variability of indigenous peoples’ underlying infection by SARS-CoV-2. The objective of the study is to investigate genetic variants present in the genes AQP3, ARHGAP27, ELF5L, IFNAR2, LIMD1, OAS1 and UPK1A, selected due to their association with the severity of COVID-19, in a sample of indigenous people from the Brazilian Amazon in order to describe potential new and already studied variants. We performed the complete sequencing of the exome of 64 healthy indigenous people from the Brazilian Amazon. The allele frequency data of the population were compared with data from other continental populations. A total of 66 variants present in the seven genes studied were identified, including a variant with a high impact on the ARHGAP27 gene (rs201721078) and three new variants located in the Amazon Indigenous populations (INDG) present in the AQP3, IFNAR2 and LIMD1 genes, with low, moderate and modifier impact, respectively
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 dos
Corticosteroids, 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 communities
Unraveling the protective genetic architecture of COVID-19 in the Brazilian Amazon
(Springer Science and Business Media LLC, 2024-11) Barros, Maria Clara; Souza, Jorge Estefano Santana de; Gomes, Daniel Henrique Ferreira; Pinho, Catarina Torres; Silva, Caio Santos; Silva, Cintia Helena Braga da; Cavalcante, Giovanna Chaves; Magalhães, Leandro; Pinheiro, Jhully Azevedo dos Santos; Quaresma, Juarez Antônio Simões; Falcão, Luiz Fábio Magno; Costa, Patrícia Fagundes; Salgado, Cláudio Guedes; Carneiro, Thiago Xavier; Burbano, Rommel Rodrigues; Vieira, José Ricardo dos Santos; Santos, Sidney; Souza, Giordano Bruno Soares; Souza, Sandro José de; Santos, Andrea Kely Campos Ribeiro dos
Despite all the efforts acquired in four years of the COVID-19 pandemic, the path to a full understanding of the biological mechanisms involved in this disease remains complex. This is partly due to a combination of factors, including the inherent characteristics of the infection, socio-environmental elements, and the variations observed within both the viral and the human genomes. Thus, this study aimed to investigate the correlation between genetic host factors and the severity of COVID-19. We conducted whole exome sequencing (WES) of 124 patients, categorized into severe and non-severe groups. From the whole exome sequencing (WES) association analysis, four variants (rs1770731 in CRYBG1, rs7221209 in DNAH17, rs3826295 in DGKE, and rs7913626 in CFAP46) were identified as potentially linked to a protective effect against the clinical severity of COVID-19, which may explain the less severe impact of COVID-19 on the Northern Region. Our findings underscore the importance of carrying out more genomic studies in populations living in the Amazon, one of the most diverse from the point of view of the presence of rare and specific alleles. To our knowledge, this is the first WES study of admixed individuals from the Brazilian Amazon to investigate genomic variants associated with the clinical severity of COVID-19

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Navegando por Autor "Santos, Andrea Kely Campos Ribeiro dos"