TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
Texto Completo: | https://www.arca.fiocruz.br/handle/icict/45782 |
Resumo: | Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001 (RPS, SCMAY, and SPC). The study was also supported by the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq 470959/2014-2 and 405595/2016-6) through a grant to MSG. We would like to thank all the SCA individuals who agreed to participate in our research protocol. We also thank the staff of the Bahia State Hematology and Hemotherapy Foundation (HEMOBA) for their assistance with sample collection and for caring for SCA individuals. |
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Santiago, Rayra PereiraFigueiredo, Camylla Vilas BoasFiuza, Luciana MagalhãesYahouédéhou, Sétondji Cocou Modeste AlexandreOliveira, Rodrigo MotaAleluia, Milena MagalhãesCarvalho, Suellen PinheiroFonseca, Cleverson AlvesNascimento, Valma Maria LopesRocha, Larissa CarneiroGuarda, Caroline ConceiçãoGonçalves, Marilda de Souza2021-01-22T13:20:57Z2021-01-22T13:20:57Z2020SANTIAGO, Rayra Pereira et al. TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia. Disease Markers, p. 1-9, 2020.0278-0240https://www.arca.fiocruz.br/handle/icict/4578210.1155/2020/8867986Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001 (RPS, SCMAY, and SPC). The study was also supported by the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq 470959/2014-2 and 405595/2016-6) through a grant to MSG. We would like to thank all the SCA individuals who agreed to participate in our research protocol. We also thank the staff of the Bahia State Hematology and Hemotherapy Foundation (HEMOBA) for their assistance with sample collection and for caring for SCA individuals.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Universidade Estadual de Santa Cruz. Departamento de Ciências Biológicas. Ilhéus, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Individuals with sickle cell anemia (SCA) present chronic anemia, hemolysis, an exacerbated inflammatory response, and heterogeneous clinical complications, which may be modulated by the transforming growth factor beta (TGF-β) pathway. Thus, we aimed to investigate polymorphisms (rs1805110 and rs7526590) of the transforming growth factor beta receptor III gene (TGFBR3) with regard to laboratory biomarkers and clinical manifestations in individuals with SCA. Hematological, biochemical, immunological, and genetic analyses were carried out, as well as serum endothelin-1 measurements. The minor allele (A) of the TGFBR3 rs1805110 polymorphism was associated with increased hemoglobin, hematocrit, reticulocyte counts, total cholesterol, low-density lipoprotein, uric acid, and endothelin levels, as well as decreased platelet distribution width (PDW) and the occurrence of bone alterations. The minor allele (T) of TGFBR3 rs7526590 was associated with increased red cell distribution width, PDW, alkaline phosphatase, aspartate aminotransferase, total and indirect bilirubin, and lactate dehydrogenase levels, as well as lower ferritin levels and the occurrence of leg ulcers. Our data suggest that the minor allele (A) of TGFBR3 rs1805110 is associated with inflammation and bone alterations, while the minor allele (T) of TGFBR3 rs7526590 is related to hemolysis and the occurrence of leg ulcers.engHindawiPolimorfismosAnemia falciformeBiomarcadores de laboratórioPolymorphismsAnemia Sickle CellBiomarkersTGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemiainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-83097https://www.arca.fiocruz.br/bitstream/icict/45782/1/license.txt36b51ef91c52b5338d9d29ba0cc807bcMD51ORIGINALSantiago, Pereira Rayra. TGFBR3 Polymorphisms....pdfSantiago, Pereira Rayra. TGFBR3 Polymorphisms....pdfapplication/pdf1535708https://www.arca.fiocruz.br/bitstream/icict/45782/2/Santiago%2c%20Pereira%20Rayra.%20TGFBR3%20Polymorphisms....pdf663e1f065de62c4841b297df0f71726cMD52TEXTSantiago, Pereira Rayra. TGFBR3 Polymorphisms....pdf.txtSantiago, Pereira Rayra. 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dc.title.pt_BR.fl_str_mv |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia |
title |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia |
spellingShingle |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia Santiago, Rayra Pereira Polimorfismos Anemia falciforme Biomarcadores de laboratório Polymorphisms Anemia Sickle Cell Biomarkers |
title_short |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia |
title_full |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia |
title_fullStr |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia |
title_full_unstemmed |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia |
title_sort |
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia |
author |
Santiago, Rayra Pereira |
author_facet |
Santiago, Rayra Pereira Figueiredo, Camylla Vilas Boas Fiuza, Luciana Magalhães Yahouédéhou, Sétondji Cocou Modeste Alexandre Oliveira, Rodrigo Mota Aleluia, Milena Magalhães Carvalho, Suellen Pinheiro Fonseca, Cleverson Alves Nascimento, Valma Maria Lopes Rocha, Larissa Carneiro Guarda, Caroline Conceição Gonçalves, Marilda de Souza |
author_role |
author |
author2 |
Figueiredo, Camylla Vilas Boas Fiuza, Luciana Magalhães Yahouédéhou, Sétondji Cocou Modeste Alexandre Oliveira, Rodrigo Mota Aleluia, Milena Magalhães Carvalho, Suellen Pinheiro Fonseca, Cleverson Alves Nascimento, Valma Maria Lopes Rocha, Larissa Carneiro Guarda, Caroline Conceição Gonçalves, Marilda de Souza |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Santiago, Rayra Pereira Figueiredo, Camylla Vilas Boas Fiuza, Luciana Magalhães Yahouédéhou, Sétondji Cocou Modeste Alexandre Oliveira, Rodrigo Mota Aleluia, Milena Magalhães Carvalho, Suellen Pinheiro Fonseca, Cleverson Alves Nascimento, Valma Maria Lopes Rocha, Larissa Carneiro Guarda, Caroline Conceição Gonçalves, Marilda de Souza |
dc.subject.other.pt_BR.fl_str_mv |
Polimorfismos Anemia falciforme Biomarcadores de laboratório |
topic |
Polimorfismos Anemia falciforme Biomarcadores de laboratório Polymorphisms Anemia Sickle Cell Biomarkers |
dc.subject.en.pt_BR.fl_str_mv |
Polymorphisms Anemia Sickle Cell Biomarkers |
description |
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001 (RPS, SCMAY, and SPC). The study was also supported by the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq 470959/2014-2 and 405595/2016-6) through a grant to MSG. We would like to thank all the SCA individuals who agreed to participate in our research protocol. We also thank the staff of the Bahia State Hematology and Hemotherapy Foundation (HEMOBA) for their assistance with sample collection and for caring for SCA individuals. |
publishDate |
2020 |
dc.date.issued.fl_str_mv |
2020 |
dc.date.accessioned.fl_str_mv |
2021-01-22T13:20:57Z |
dc.date.available.fl_str_mv |
2021-01-22T13:20:57Z |
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info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
SANTIAGO, Rayra Pereira et al. TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia. Disease Markers, p. 1-9, 2020. |
dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/45782 |
dc.identifier.issn.pt_BR.fl_str_mv |
0278-0240 |
dc.identifier.doi.none.fl_str_mv |
10.1155/2020/8867986 |
identifier_str_mv |
SANTIAGO, Rayra Pereira et al. TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia. Disease Markers, p. 1-9, 2020. 0278-0240 10.1155/2020/8867986 |
url |
https://www.arca.fiocruz.br/handle/icict/45782 |
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eng |
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eng |
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info:eu-repo/semantics/openAccess |
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openAccess |
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Hindawi |
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Hindawi |
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