Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children

Detalhes bibliográficos
Autor(a) principal: Ginete, Catarina
Data de Publicação: 2023
Outros Autores: Delgadinho, Mariana, Santos, Brígida, Pinto, Vera, Silva, Carina, Miranda, Armandina, Brito, Miguel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.21/16049
Resumo: This research was funded by FCT/Aga Khan (project nº330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020)—H&TRC.
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spelling Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan childrenSickle cell anemiaHydroxyureaPharmacogeneticsNext-generation sequencingNGSAngolaAga Khan_project nº 330842553FCT_UIDB/05608/2020FCT_UIDP/05608/2020This research was funded by FCT/Aga Khan (project nº330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020)—H&TRC.Sickle cell anemia (SCA) is an inherited disease affecting the hemoglobin that is particularly common in sub-Saharan Africa. Although monogenic, phenotypes are markedly heterogeneous in terms of severity and life span. Hydroxyurea is still the most common treatment for these patients, and the response to treatment is highly variable and seems to be an inherited trait. Therefore, identifying the variants that might predict hydroxyurea response is important for identifying patients who will have a poorer or non-response to treatment, and the ones that are more prone to suffer from severe side effects. In the present pharmacogenetic study, we analyzed the exons of 77 genes described in the literature as potentially associated with hydroxyurea metabolism in Angolan children treated with hydroxyurea and evaluated the drug response considering fetal hemoglobin levels, other hematological and biochemical parameters, hemolysis, number of vaso-occlusive crises and hospitalizations. Thirty variants were identified in 18 of those genes as possibly associated with drug response, five of them in gene DCHS2. Other polymorphisms in this gene were also associated with hematological, biochemical, and clinical parameters. Further research examining the maximum tolerated dose and fixed-dose with a larger sample size is necessary to corroborate these findings.MDPIRCIPLGinete, CatarinaDelgadinho, MarianaSantos, BrígidaPinto, VeraSilva, CarinaMiranda, ArmandinaBrito, Miguel2023-05-17T10:20:46Z2023-052023-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.21/16049engGinete C, Delgadinho M, Santos B, Pinto V, Silva C, Miranda A, Brito M. Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children. Int J Mol Sci. 2023;24(10):8792.10.3390/ijms24108792info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-08-03T10:14:17Zoai:repositorio.ipl.pt:10400.21/16049Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:23:39.332585Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
title Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
spellingShingle Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
Ginete, Catarina
Sickle cell anemia
Hydroxyurea
Pharmacogenetics
Next-generation sequencing
NGS
Angola
Aga Khan_project nº 330842553
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
title_short Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
title_full Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
title_fullStr Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
title_full_unstemmed Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
title_sort Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children
author Ginete, Catarina
author_facet Ginete, Catarina
Delgadinho, Mariana
Santos, Brígida
Pinto, Vera
Silva, Carina
Miranda, Armandina
Brito, Miguel
author_role author
author2 Delgadinho, Mariana
Santos, Brígida
Pinto, Vera
Silva, Carina
Miranda, Armandina
Brito, Miguel
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv RCIPL
dc.contributor.author.fl_str_mv Ginete, Catarina
Delgadinho, Mariana
Santos, Brígida
Pinto, Vera
Silva, Carina
Miranda, Armandina
Brito, Miguel
dc.subject.por.fl_str_mv Sickle cell anemia
Hydroxyurea
Pharmacogenetics
Next-generation sequencing
NGS
Angola
Aga Khan_project nº 330842553
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
topic Sickle cell anemia
Hydroxyurea
Pharmacogenetics
Next-generation sequencing
NGS
Angola
Aga Khan_project nº 330842553
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
description This research was funded by FCT/Aga Khan (project nº330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020)—H&TRC.
publishDate 2023
dc.date.none.fl_str_mv 2023-05-17T10:20:46Z
2023-05
2023-05-01T00:00:00Z
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.uri.fl_str_mv http://hdl.handle.net/10400.21/16049
url http://hdl.handle.net/10400.21/16049
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Ginete C, Delgadinho M, Santos B, Pinto V, Silva C, Miranda A, Brito M. Are genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan children. Int J Mol Sci. 2023;24(10):8792.
10.3390/ijms24108792
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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