Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response
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/44391 |
Resumo: | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) (470959/2014- 2 and 405595/2016-6) |
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Yahouédéhou, Sètondji Cocou Modeste AlexandreNeres, Joelma Santana dos SantosGuarda, Caroline Conceição daCarvalho, Suellen PinheiroSantiago, Rayra PereiraFigueiredo, Camylla Vilas BoasFiuza, Luciana MagalhãesNdidi, Uche SamuelOliveira, Rodrigo Mota deFonseca, Cleverson AlvesNascimento, Valma Maria LopesRocha, Larissa CarneiroAdanho, Corynne Stephanie AhouefaRocha, Tiago Santos Carvalho daAdorno, Elisângela VitóriaGoncalves, Marilda de Souza2020-11-13T11:50:31Z2020-11-13T11:50:31Z2020YAHOUÉDÉHOU, Sètondji Cocou Modeste Alexandre et al. Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response. Frontiers in Pharmacology, v. 11, p. 1-11, 9 Sept. 2020.1663-9812https://www.arca.fiocruz.br/handle/icict/4439110.3389/fphar.2020.5530641663-9812Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) (470959/2014- 2 and 405595/2016-6)Programa Inova Fiocruz - Edital Geração de Conhecimento (VPPCB-007-FIO-18-2-66)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Ahmadu Bello University. Department of Biochemistry. Zaria, Nigeria.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia da Bahia. Ambulatório. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia da Bahia. Ambulatório. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas. Laboratório de Pesquisa em Anemia. Salvador, BA, Brasil.Differences in hydroxyurea response in sickle cell anemia may arise due to a series of factors with genetic factors appearing to be predominant. This study aims to investigate the effects of single nucleotide polymorphisms in genes encoding drug-metabolizing enzymes and solute carriers on hydroxyurea response, in patients with sickle cell anemia. For that purpose, a total number of 90 patients with sickle cell anemia were recruited, 45 were undergoing hydroxyurea treatment, while 45 were not under the treatment. Association analyses were performed between CYP3A4 (rs2740574), CYP2D6 (rs3892097), CAT (rs7943316 and rs1001179), and SLC14A1 (rs2298720) variants and laboratory parameters. According to our findings, patients with hydroxyurea treatment demonstrated higher HbF levels and a significant improvement in hemolytic, hepatic, inflammatory, and lipid parameters in comparison to those without the treatment. We also found significant associations between the CYP2D6 (rs3892097), CAT (rs7943316 and rs1001179), and SLC14A1 (rs2298720) variants and an improvement of the therapeutic effects, specifically the hemolytic, hepatic, inflammatory, lipid, and renal parameters. In conclusion, our results highlight the importance of the investigated variants, and their strong association with hydroxyurea efficacy in patients with sickle cell anemia, which may be considered in the future as genetic markers.engFrontiers MediaAnemia falciformeHidroxiureiaCYP2D6CYP3A4CATSLC14A1LaboratórioSickle cell anemiaHydroxyureaCYP2D6CYP3A4CATSLC14A1Laboratory parametersSickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea responseinfo: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/44391/1/license.txt36b51ef91c52b5338d9d29ba0cc807bcMD51ORIGINALYahouédéhou, Sètondji Cocou Modeste, Alexandre, Skicle....pdfYahouédéhou, Sètondji Cocou Modeste, Alexandre, 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dc.title.en.fl_str_mv |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response |
title |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response |
spellingShingle |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response Yahouédéhou, Sètondji Cocou Modeste Alexandre Anemia falciforme Hidroxiureia CYP2D6 CYP3A4 CAT SLC14A1 Laboratório Sickle cell anemia Hydroxyurea CYP2D6 CYP3A4 CAT SLC14A1 Laboratory parameters |
title_short |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response |
title_full |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response |
title_fullStr |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response |
title_full_unstemmed |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response |
title_sort |
Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response |
author |
Yahouédéhou, Sètondji Cocou Modeste Alexandre |
author_facet |
Yahouédéhou, Sètondji Cocou Modeste Alexandre Neres, Joelma Santana dos Santos Guarda, Caroline Conceição da Carvalho, Suellen Pinheiro Santiago, Rayra Pereira Figueiredo, Camylla Vilas Boas Fiuza, Luciana Magalhães Ndidi, Uche Samuel Oliveira, Rodrigo Mota de Fonseca, Cleverson Alves Nascimento, Valma Maria Lopes Rocha, Larissa Carneiro Adanho, Corynne Stephanie Ahouefa Rocha, Tiago Santos Carvalho da Adorno, Elisângela Vitória Goncalves, Marilda de Souza |
author_role |
author |
author2 |
Neres, Joelma Santana dos Santos Guarda, Caroline Conceição da Carvalho, Suellen Pinheiro Santiago, Rayra Pereira Figueiredo, Camylla Vilas Boas Fiuza, Luciana Magalhães Ndidi, Uche Samuel Oliveira, Rodrigo Mota de Fonseca, Cleverson Alves Nascimento, Valma Maria Lopes Rocha, Larissa Carneiro Adanho, Corynne Stephanie Ahouefa Rocha, Tiago Santos Carvalho da Adorno, Elisângela Vitória Goncalves, Marilda de Souza |
author2_role |
author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Yahouédéhou, Sètondji Cocou Modeste Alexandre Neres, Joelma Santana dos Santos Guarda, Caroline Conceição da Carvalho, Suellen Pinheiro Santiago, Rayra Pereira Figueiredo, Camylla Vilas Boas Fiuza, Luciana Magalhães Ndidi, Uche Samuel Oliveira, Rodrigo Mota de Fonseca, Cleverson Alves Nascimento, Valma Maria Lopes Rocha, Larissa Carneiro Adanho, Corynne Stephanie Ahouefa Rocha, Tiago Santos Carvalho da Adorno, Elisângela Vitória Goncalves, Marilda de Souza |
dc.subject.other.pt_BR.fl_str_mv |
Anemia falciforme Hidroxiureia CYP2D6 CYP3A4 CAT SLC14A1 Laboratório |
topic |
Anemia falciforme Hidroxiureia CYP2D6 CYP3A4 CAT SLC14A1 Laboratório Sickle cell anemia Hydroxyurea CYP2D6 CYP3A4 CAT SLC14A1 Laboratory parameters |
dc.subject.en.en.fl_str_mv |
Sickle cell anemia Hydroxyurea CYP2D6 CYP3A4 CAT SLC14A1 Laboratory parameters |
description |
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) (470959/2014- 2 and 405595/2016-6) |
publishDate |
2020 |
dc.date.accessioned.fl_str_mv |
2020-11-13T11:50:31Z |
dc.date.available.fl_str_mv |
2020-11-13T11:50:31Z |
dc.date.issued.fl_str_mv |
2020 |
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info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
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publishedVersion |
dc.identifier.citation.fl_str_mv |
YAHOUÉDÉHOU, Sètondji Cocou Modeste Alexandre et al. Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response. Frontiers in Pharmacology, v. 11, p. 1-11, 9 Sept. 2020. |
dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/44391 |
dc.identifier.issn.pt_BR.fl_str_mv |
1663-9812 |
dc.identifier.doi.pt_BR.fl_str_mv |
10.3389/fphar.2020.553064 |
dc.identifier.eissn.pt_BR.fl_str_mv |
1663-9812 |
identifier_str_mv |
YAHOUÉDÉHOU, Sètondji Cocou Modeste Alexandre et al. Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response. Frontiers in Pharmacology, v. 11, p. 1-11, 9 Sept. 2020. 1663-9812 10.3389/fphar.2020.553064 |
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https://www.arca.fiocruz.br/handle/icict/44391 |
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eng |
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eng |
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Frontiers Media |
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Frontiers Media |
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