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Genetic modifiers of sickle cell anemia phenotype in a cohort of Angolan children

2024-04Journal article Open access
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dc.contributor.authorGinete, Catarina
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorSantos, Brígida
dc.contributor.authorMiranda, Armandina
dc.contributor.authorSilva, Carina
dc.contributor.authorGuerreiro, Paulo
dc.contributor.authorChimusa, Emile R.
dc.contributor.authorBrito, Miguel
dc.date.accessioned2024-04-10T09:44:37Z
dc.date.available2024-04-10T09:44:37Z
dc.date.issued2024-04
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.abstractThis study aimed to identify genetic markers in the HBB Cluster; HBS1L-MYB intergenic region; and BCL11A, KLF1, FOX3, and ZBTB7A genes associated with the heterogeneous phenotypes of Sickle Cell Anemia (SCA) using the next-generation sequencing, as well as to assess their influence and prevalence in an Angolan population. Hematological, biochemical, and clinical data were considered to determine patients’ severity phenotypes. Samples from 192 patients were sequenced, and 5,019,378 variants of high quality were registered. A catalog of candidate modifier genes that clustered in pathophysiological pathways important for SCA was generated, and candidate genes associated with increasing vaso-occlusive crises (VOC) and with lower fetal hemoglobin (HbF) were identified. These data support the polygenic view of the genetic architecture of SCA phenotypic variability. Two single nucleotide polymorphisms in the intronic region of 2q16.1, harboring the BCL11A gene, are genome-wide and significantly associated with decreasing HbF. A set of variants was identified to nominally be associated with increasing VOC and are potential genetic modifiers harboring phenotypic variation among patients. To the best of our knowledge, this is the first investigation of clinical variation in SCA in Angola using a well-customized and targeted sequencing approach.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGinete C, Delgadinho M, Santos B, Silva C, Guerreiro P, Brito M, et al. Genetic modifiers of sickle cell anemia phenotype in a cohort of Angolan children. Genes. 2024;15(4):469.pt_PT
dc.identifier.doi10.3390/genes15040469pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/17282
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationProject nº 330842553_FCT/Aga Khanpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/2073-4425/15/4/469pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectSickle cell anemiapt_PT
dc.subjectNext-generation sequencingpt_PT
dc.subjectNGSpt_PT
dc.subjectChildrenpt_PT
dc.subjectAngolapt_PT
dc.subjectFCT/Aga Khan_Project nº 330842553pt_PT
dc.subjectFCT_UIDB/05608/2020pt_PT
dc.subjectFCT_UIDP/05608/2020pt_PT
dc.titleGenetic modifiers of sickle cell anemia phenotype in a cohort of Angolan childrenpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue4pt_PT
oaire.citation.startPage469pt_PT
oaire.citation.titleGenespt_PT
oaire.citation.volume15pt_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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