ICe - Artigos publicados em periódicos

URI Permanente para esta coleçãohttps://repositorio.ufrn.br/handle/1/6192

Repositório da produção científica do Instituto do Cérebro - ICe, da UFRN, Unidade Acadêmica Especializada em neurociências.

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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

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Navegando ICe - Artigos publicados em periódicos por Autor "Aguiar, Kaio Evandro Cardoso"