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Influence of Functional Variations in Genes of Neurotrophins and Neurotransmitter Systems on the Development of Retinopathy of Prematurity

2025Journal article Open access
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dc.contributor.authorFevereiro-Martins, M
dc.contributor.authorSantos, AC
dc.contributor.authorMarques-Neves, C
dc.contributor.authorGuimarães, H
dc.contributor.authorBicho, M
dc.date.accessioned2025-02-06T22:58:03Z
dc.date.available2025-02-06T22:58:03Z
dc.date.issued2025
dc.description.abstractfirst_pagesettingsOrder Article Reprints Open AccessArticle Influence of Functional Variations in Genes of Neurotrophins and Neurotransmitter Systems on the Development of Retinopathy of Prematurity by Mariza Fevereiro-Martins 1,2,3,4,*,Ana Carolina Santos 1,2ORCID,Carlos Marques-Neves 1,2,5,Hercília Guimarães 6ORCID,Manuel Bicho 1,2,3ORCID andon behalf of the GenE-ROP Study Group † 1 Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal 2 Grupo Ecogenética e Saúde Humana, Instituto de Saúde Ambiental-ISAMB, Laboratório Associado Terra, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal 3 Instituto de Investigação Científica Bento da Rocha Cabral, Calçada Bento da Rocha Cabral 14, 1250-012 Lisboa, Portugal 4 Departamento de Oftalmologia, Hospital Cuf Descobertas, Rua Mário Botas, 1998-018 Lisboa, Portugal 5 Centro de Estudos das Ciências da Visão, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, Piso 1C, 1649-028 Lisboa, Portugal 6 Departamento de Ginecologia-Obstetrícia e Pediatria, Faculdade de Medicina, Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal * Author to whom correspondence should be addressed. † Collaborators of the study group are included in the Acknowledgments. Int. J. Mol. Sci. 2025, 26(3), 898; https://doi.org/10.3390/ijms26030898 Submission received: 7 December 2024 / Revised: 20 January 2025 / Accepted: 20 January 2025 / Published: 22 January 2025 (This article belongs to the Special Issue Molecular Aspects of Retinopathy and Protection) Downloadkeyboard_arrow_down Browse Figure Review Reports Versions Notes Abstract Retinal neurodevelopment, vascularization, homeostasis, and stress response are influenced by factors such as nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), tyrosine hydroxylase (TH), and erythropoietin (EPO). As retinopathy of prematurity (ROP) is a neurovascular retinal disease, this study analyzed the contributions of NGF (rs6330), BDNF (rs7934165), TH (rs10770141), and EPO (rs507392) genetic functional polymorphisms to the modulation of hematological and biochemical parameters of the first week of life and their association with ROP development. A multicenter cohort of 396 preterm infants (gestational age < 32 weeks or birth weight < 1500 g) was genotyped using MicroChip DNA and iPlex MassARRAY® platform. Multivariate regression followed univariate assessment of ROP risk factors. NGF (GG) genotype was associated with a higher ROP risk (OR = 1.79), which increased further (OR = 2.38) when epistatic interactions with TH (allele C) and BDNF (allele G) were present. Significant circulating biomarker differences, including bilirubin, erythrocytes, monocytes, neutrophils, lymphocytes, and platelet markers, were found between ROP and non-ROP groups, with variations depending on the polymorphism. These findings suggest that NGF (rs6330) and its interactions with related genes contribute to ROP risk, providing valuable insights into the genetic and biological mechanisms underlying the disease and identifying potential predictive biomarkers.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInt. J. Mol. Sci. 2025, 26(3), 898pt_PT
dc.identifier.doi10.3390/ijms26030898pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/54278
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectRetinopatia da Prematuridade/genéticapt_PT
dc.subjectRetinopathy of Prematurity/genéticapt_PT
dc.subjectRetinopathy of Prematuritypt_PT
dc.titleInfluence of Functional Variations in Genes of Neurotrophins and Neurotransmitter Systems on the Development of Retinopathy of Prematuritypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue3pt_PT
oaire.citation.startPage898pt_PT
oaire.citation.titleInternational Journal of Molecular Sciencespt_PT
oaire.citation.volume26pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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