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

2023-05Journal article Open access
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dc.contributor.authorGinete, Catarina
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorSantos, Brígida
dc.contributor.authorPinto, Vera
dc.contributor.authorSilva, Carina
dc.contributor.authorMiranda, Armandina
dc.contributor.authorBrito, Miguel
dc.date.accessioned2023-05-17T10:20:46Z
dc.date.available2023-05-17T10:20:46Z
dc.date.issued2023-05
dc.descriptionThis research was funded by FCT/Aga Khan (project nº330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020)—H&TRC.pt_PT
dc.description.abstractSickle 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGinete 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.pt_PT
dc.identifier.doi10.3390/ijms24108792pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/16049
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationFCT/Aga Khan (project nº 330842553)pt_PT
dc.relation.publisherversionhttps://www.mdpi.com/1422-0067/24/10/8792pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectSickle cell anemiapt_PT
dc.subjectHydroxyureapt_PT
dc.subjectPharmacogeneticspt_PT
dc.subjectNext-generation sequencingpt_PT
dc.subjectNGSpt_PT
dc.subjectAngolapt_PT
dc.subjectAga Khan_project nº 330842553pt_PT
dc.subjectFCT_UIDB/05608/2020pt_PT
dc.subjectFCT_UIDP/05608/2020pt_PT
dc.titleAre genetic modifiers the answer to different responses to hydroxyurea treatment? A pharmacogenetic study in sickle cell anemia Angolan childrenpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue10pt_PT
oaire.citation.startPage8792pt_PT
oaire.citation.titleInternational Journal of Molecular Sciencespt_PT
oaire.citation.volume24pt_PT
person.familyNameHonrado Ginete
person.familyNameNeves Delgadinho
person.familyNameSilva
person.familyNameBrito
person.givenNameAna Catarina
person.givenNameMariana Isabel
person.givenNameCarina
person.givenNameMiguel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.ciencia-id2411-5936-0820
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0003-0586-9154
person.identifier.orcid0000-0003-1021-7935
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id55258764900
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublicationca55aab6-9a58-4f79-ab79-20513414099f
relation.isAuthorOfPublication81a5cd80-1982-43ba-bde5-4c43ae0e5234
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscoverydfb2fbba-17ff-42fb-905a-fcfc8f326e1c

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