Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/34731
Title: Differential gene expression analysis of sickle cell anemia in steady and crisis state
Authors: Zanette, Dalila Lucíola
Santiago, Rayra Pereira
Leite, Ivana Paula Ribeiro
Santana, Sanzio Silva
Guarda, Caroline Conceição da
Maffili, Vitor Valério
Ferreira, Junia Raquel Dutra
Adanho, Corynne Stephanie Ahouefa
Yahouedehou, Setondji Cocou Modeste Alexandre
Menezes, Isa Lyra
Goncalves, Marilda Souza
Affilliation: Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Hospital Pediátrico Professor Hosannah de Oliveira. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Universidade Federal da Bahia. Faculdade de Farmacia. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Universidade Federal da Bahia. Hospital Pediátrico Professor Hosannah de Oliveira. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmacia. Salvador, BA, Brasil.
Abstract: Sickle cell anemia is one of the most prevalent genetic diseases worldwide, showing great clinical heterogeneity. This study compared the gene expression patterns between sickle cell anemia pediatric patients in steady state and in crisis state, as compared to age-paired, healthy individuals. RNA sequencing was performed from these groups of patients/controls using Illumina HiSeq 2500 equipment. The resulting differentially expressed genes were loaded into QIAGEN's ingenuity pathway analysis. The results showed that EIF2 pathway and NRF2-mediated oxidative stress-response pathways were more highly activated both in steady state and in crisis patients, as compared to healthy individuals. In addition, we found increased activation of eIF4 and p70S6K signaling pathways in crisis state compared to healthy individuals. The transcription factor GATA-1 was found exclusively in steady state while SPI was found exclusively in crisis state. IL6 and VEGFA were found only in crisis state, while IL-1B was found exclusively in steady state. The regulator effects analysis revealed IgG1 as an upstream regulator in steady state compared to healthy individuals, resulting in invasion of prostate cancer cell lines as the disease/function outcome. For crisis-state patients versus healthy individuals, two networks of regulator effects revealed STAT1, CD40LG, TGM2, IRF7, IRF4, and IRF1 acting as upstream regulators, resulting in disease/function outcomes, including engulfment of cells and aggregation of blood cells and inflammation of joints. Our results indicated genes and pathways that can provide clues on the molecular events involved in the severity of sickle cell disease.
Keywords: Gene expression
Sickle cell anemia
Signaling pathways
Vaso-occlusive crisis
keywords: Expressão gênica
Anemia falciforme
Vias de sinalização
Crise vaso-oclusiva
Issue Date: 2019
Publisher: Blackwell Publishing Ltd
Citation: ZANETTE, Dalila Lucíola et al. Differential gene expression analysis of sickle cell anemia in steady and crisis state. Annals of Human Genetics, p. 1-8, 2019.
DOI: 10.1111/ahg.12290
ISSN: 0003-4800
Copyright: restricted access
Appears in Collections:BA - IGM - Artigos de Periódicos

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