Sickle cell anemia: variants in the CYP2D6, CAT, and SLC14A1 genes are associated with improved hydroxyurea response

Detalhes bibliográficos
Autor(a) principal: Yahouédéhou, Sètondji Cocou Modeste Alexandre
Data de Publicação: 2020
Outros Autores: 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
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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spelling 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
dc.type.status.fl_str_mv 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 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
url https://www.arca.fiocruz.br/handle/icict/44391
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
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instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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