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

Detalhes bibliográficos
Autor(a) principal: Fevereiro-Martins, Mariza
Data de Publicação: 2023
Outros Autores: Santos, Ana Carolina, Marques-Neves, Carlos, Guimarães, Hercília, Bicho, Manuel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: http://hdl.handle.net/10451/60543
Resumo: © 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/).
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spelling Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort studyDNA methylationDNA polymorphismBiomarkerEpigeneticsGene expressionHistone modificationsPathophysiologyPreterm infantRetinaRetinopathy of prematurity.© 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/).The 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.This 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.MDPIRepositório da Universidade de LisboaFevereiro-Martins, MarizaSantos, Ana CarolinaMarques-Neves, CarlosGuimarães, HercíliaBicho, Manuel2023-11-14T15:07:32Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/60543engInt J Mol Sci. 2023 Jul 23;24(14):118171661-659610.3390/ijms2414118171422-0067info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-17T15:04:45Zoai:repositorio.ulisboa.pt:10451/60543Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T03:33:05.322700Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
title Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
spellingShingle Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
Fevereiro-Martins, Mariza
DNA methylation
DNA polymorphism
Biomarker
Epigenetics
Gene expression
Histone modifications
Pathophysiology
Preterm infant
Retina
Retinopathy of prematurity.
title_short Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
title_full Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
title_fullStr Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
title_full_unstemmed Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
title_sort Genetic modulation of the erythrocyte phenotype associated with retinopathy of prematurity—a multicenter Portuguese cohort study
author Fevereiro-Martins, Mariza
author_facet Fevereiro-Martins, Mariza
Santos, Ana Carolina
Marques-Neves, Carlos
Guimarães, Hercília
Bicho, Manuel
author_role author
author2 Santos, Ana Carolina
Marques-Neves, Carlos
Guimarães, Hercília
Bicho, Manuel
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Fevereiro-Martins, Mariza
Santos, Ana Carolina
Marques-Neves, Carlos
Guimarães, Hercília
Bicho, Manuel
dc.subject.por.fl_str_mv DNA methylation
DNA polymorphism
Biomarker
Epigenetics
Gene expression
Histone modifications
Pathophysiology
Preterm infant
Retina
Retinopathy of prematurity.
topic DNA methylation
DNA polymorphism
Biomarker
Epigenetics
Gene expression
Histone modifications
Pathophysiology
Preterm infant
Retina
Retinopathy of prematurity.
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/).
publishDate 2023
dc.date.none.fl_str_mv 2023-11-14T15:07:32Z
2023
2023-01-01T00:00:00Z
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/10451/60543
url http://hdl.handle.net/10451/60543
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Int J Mol Sci. 2023 Jul 23;24(14):11817
1661-6596
10.3390/ijms241411817
1422-0067
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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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