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Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study

2023Journal article Open access
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dc.contributor.authorFevereiro-Martins, Mariza
dc.contributor.authorSantos, Ana Carolina
dc.contributor.authorMarques-Neves, Carlos
dc.contributor.authorGuimarães, Hercília
dc.contributor.authorBicho, Manuel
dc.date.accessioned2023-11-14T15:07:32Z
dc.date.available2023-11-14T15:07:32Z
dc.date.issued2023
dc.description© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).pt_PT
dc.description.abstractThe development of retinopathy of prematurity (ROP) may be influenced by anemia or a low fetal/adult hemoglobin ratio. We aimed to analyze the association between DNA methyltransferase 3 β (DNMT3B) (rs2424913), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), and lysine-specific histone demethylase 1A (KDM1A) (rs7548692) polymorphisms, erythrocyte parameters during the first week of life, and ROP. In total, 396 infants (gestational age < 32 weeks or birth weight < 1500 g) were evaluated clinically and hematologically. Genotyping was performed using a MicroChip DNA on a platform employing iPlex MassARRAY®. Multivariate regression was performed after determining risk factors for ROP using univariate regression. In the group of infants who developed ROP red blood cell distribution width (RDW), erythroblasts, and mean corpuscular volume (MCV) were higher, while mean hemoglobin and mean corpuscular hemoglobin concentration (MCHC) were lower; higher RDW was associated with KDM1A (AA), MTHFR (CC and CC + TT), KDM1A (AA) + MTHFR (CC), and KDM1A (AA) + DNMT3B (allele C); KDM1A (AA) + MTHFR (CC) were associated with higher RDW, erythroblasts, MCV, and mean corpuscular hemoglobin (MCH); higher MCV and MCH were also associated with KDM1A (AA) + MTHFR (CC) + DNMT3B (allele C). We concluded that the polymorphisms studied may influence susceptibility to ROP by modulating erythropoiesis and gene expression of the fetal/adult hemoglobin ratio.pt_PT
dc.description.sponsorshipThis work was supported by the Genetics Laboratory, Environmental Health Institute (ISAMB), Associate Laboratory TERRA, Faculty of Medicine of the University of Lisbon, the Institute for Scientific Research Bento Rocha Cabral, and the company HeartGenetics, Genetics and Biotechnology SA. The writing of the manuscript was also supported by funds from the Foundation for Science and Technology to ISAMB (ref. UIDB/04295/2020 and UIDP/04295/2020), Ph.D. scholarship in medicine from the company CUF and the Portuguese Society of Ophthalmology.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInt J Mol Sci. 2023 Jul 23;24(14):11817pt_PT
dc.identifier.doi10.3390/ijms241411817pt_PT
dc.identifier.eissn1422-0067
dc.identifier.issn1661-6596
dc.identifier.urihttp://hdl.handle.net/10451/60543
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationEnvironmental Health Institute
dc.relationEnvironmental Health Institute
dc.relation.publisherversionhttps://www.mdpi.com/journal/ijmspt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectDNA methylationpt_PT
dc.subjectDNA polymorphismpt_PT
dc.subjectBiomarkerpt_PT
dc.subjectEpigeneticspt_PT
dc.subjectGene expressionpt_PT
dc.subjectHistone modificationspt_PT
dc.subjectPathophysiologypt_PT
dc.subjectPreterm infantpt_PT
dc.subjectRetinapt_PT
dc.subjectRetinopathy of prematurity.pt_PT
dc.titleGenetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleEnvironmental Health Institute
oaire.awardTitleEnvironmental Health Institute
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04295%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F04295%2F2020/PT
oaire.citation.issue14pt_PT
oaire.citation.titleInternational Journal of Molecular Sciencespt_PT
oaire.citation.volume24pt_PT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
person.familyNameFevereiro-Martins
person.familyNameCasinhas dos Santos
person.familyNameMarques Neves
person.familyNameGuimarães
person.familyNameBicho
person.givenNameMariza
person.givenNameAna Carolina
person.givenNameCarlos
person.givenNameHercília
person.givenNameManuel
person.identifier3012902
person.identifierR-000-K5H
person.identifier.ciencia-idC319-D454-CA47
person.identifier.ciencia-id6116-BD41-531E
person.identifier.ciencia-idC119-D580-13D6
person.identifier.ciencia-id9F19-BE8C-B1DF
person.identifier.ciencia-id9512-8D22-1B28
person.identifier.orcid0000-0002-1875-6581
person.identifier.orcid0000-0003-3688-4648
person.identifier.orcid0000-0002-3842-2466
person.identifier.orcid0000-0001-6402-3285
person.identifier.orcid0000-0002-5773-5687
person.identifier.scopus-author-id6504812918
person.identifier.scopus-author-id7004057361
person.identifier.scopus-author-id7004153755
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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