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Genetic modifiers of stroke in patients with sickle cell disease: a scoping review

2024-06Journal article Open access
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dc.contributor.authorOni, Morohuntodun O.
dc.contributor.authorBrito, Miguel
dc.contributor.authorRotman, Chloe
dc.contributor.authorArcher, Natasha M.
dc.date.accessioned2024-06-17T10:16:40Z
dc.date.available2024-06-17T10:16:40Z
dc.date.issued2024-06
dc.descriptionThis work was partially supported by H&TRC, FCT/MCTES grant number (UIDB/05608/2020 and UIDP/05608/2020) and the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center Talent Development Award.pt_PT
dc.description.abstractSickle cell disease (SCD) clinically manifests itself with a myriad of complications. Stroke, both ischemic and hemorrhagic, as well as silent white matter changes, occurs at a relatively high prevalence. Understanding why and in whom stroke is most likely to occur is critical to the effective prevention and treatment of individuals with SCD. Genetic studies, including genome- and exome-wide association studies (GWAS and EWAS), have found several key modifiers associated with increased stroke/stroke risk in SCD via mechanisms including Hemoglobin F (HbF) modulation, inflammation, cellular adhesion, endothelial disruption, and hemolysis. We present a review of the modifiers that have most clearly demonstrated an association to date. More studies are needed to validate other potential polymorphisms and identify new ones. Incorporating gene-focused screenings in clinical care could provide avenues for more targeted, more effective, and less toxic prevention of stroke in this population. The data from this review will be used to inform the initial GWAS performed by the International Hemoglobinopathy Research Network (INHERENT) consortium.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationOni MO, Brito M, Rotman C, Archer NM, International Hemoglobinopathy Research Network (INHERENT). Genetic modifiers of stroke in patients with sickle cell disease: a scoping review. Int J Mol Sci. 2024;25(12):6317.pt_PT
dc.identifier.doi10.3390/ijms25126317pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/17499
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/1422-0067/25/12/6317pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectSickle cell diseasept_PT
dc.subjectGenetic modifierspt_PT
dc.subjectStrokept_PT
dc.subjectCerebral vasculopathypt_PT
dc.subjectFCT_UIDB/05608/2020pt_PT
dc.subjectFCT_UIDP/05608/2020pt_PT
dc.titleGenetic modifiers of stroke in patients with sickle cell disease: a scoping reviewpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue12pt_PT
oaire.citation.startPage6317pt_PT
oaire.citation.titleInternational Journal of Molecular Sciencespt_PT
oaire.citation.volume25pt_PT
person.familyNameBrito
person.givenNameMiguel
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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