{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T21:54:02Z","timestamp":1771883642281,"version":"3.50.1"},"reference-count":71,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2023,7,23]],"date-time":"2023-07-23T00:00:00Z","timestamp":1690070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Genetics Laboratory, Environmental Health Institute (ISAMB)","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"Genetics Laboratory, Environmental Health Institute (ISAMB)","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]},{"name":"Associate Laboratory TERRA","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"Associate Laboratory TERRA","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]},{"name":"Faculty of Medicine of the University of Lisbon","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"Faculty of Medicine of the University of Lisbon","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]},{"name":"Institute for Scientific Research Bento Rocha Cabral","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"Institute for Scientific Research Bento Rocha Cabral","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]},{"name":"HeartGenetics, Genetics and Biotechnology SA","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"HeartGenetics, Genetics and Biotechnology SA","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]},{"name":"Foundation for Science and Technology to ISAMB","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"Foundation for Science and Technology to ISAMB","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]},{"name":"CUF","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"CUF","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]},{"name":"Portuguese Society of Ophthalmology","award":["UIDB\/04295\/2020"],"award-info":[{"award-number":["UIDB\/04295\/2020"]}]},{"name":"Portuguese Society of Ophthalmology","award":["UIDP\/04295\/2020"],"award-info":[{"award-number":["UIDP\/04295\/2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 \u03b2 (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 &lt; 32 weeks or birth weight &lt; 1500 g) were evaluated clinically and hematologically. Genotyping was performed using a MicroChip DNA on a platform employing iPlex MassARRAY\u00ae. 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.<\/jats:p>","DOI":"10.3390\/ijms241411817","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:47:03Z","timestamp":1690159623000},"page":"11817","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genetic Modulation of the Erythrocyte Phenotype Associated with Retinopathy of Prematurity\u2014A Multicenter Portuguese Cohort Study"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1875-6581","authenticated-orcid":false,"given":"Mariza","family":"Fevereiro-Martins","sequence":"first","affiliation":[{"name":"Ecogenetics and Human Health Unit, Environmental Health Institute-ISAMB, Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal"},{"name":"Institute for Scientific Research Bento Rocha Cabral, Cal\u00e7ada Bento da Rocha Cabral 14, 1250-012 Lisboa, Portugal"},{"name":"Department of Ophthalmology, Cuf Descobertas Hospital, Rua M\u00e1rio Botas, 1998-018 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3688-4648","authenticated-orcid":false,"given":"Ana Carolina","family":"Santos","sequence":"additional","affiliation":[{"name":"Ecogenetics and Human Health Unit, Environmental Health Institute-ISAMB, Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal"}]},{"given":"Carlos","family":"Marques-Neves","sequence":"additional","affiliation":[{"name":"Ecogenetics and Human Health Unit, Environmental Health Institute-ISAMB, Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal"},{"name":"Center for the Study of Vision Sciences, Ophthalmology Clinic, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, Piso 1C, 1649-028 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6402-3285","authenticated-orcid":false,"given":"Herc\u00edlia","family":"Guimar\u00e3es","sequence":"additional","affiliation":[{"name":"Department of Gynecology-Obstetrics and Pediatrics, Faculty of Medicine, University of Porto, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5773-5687","authenticated-orcid":false,"given":"Manuel","family":"Bicho","sequence":"additional","affiliation":[{"name":"Ecogenetics and Human Health Unit, Environmental Health Institute-ISAMB, Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal"},{"name":"Institute for Scientific Research Bento Rocha Cabral, Cal\u00e7ada Bento da Rocha Cabral 14, 1250-012 Lisboa, Portugal"}]},{"name":"on behalf of the GenE-ROP Study Group","sequence":"additional","affiliation":[]}],"member":"1968","published-online":{"date-parts":[[2023,7,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Graziosi, A., Perrotta, M., Russo, D., Gasparroni, G., D\u2019egidio, C., Marinelli, B., Di Marzio, G., Falconio, G., Mastropasqua, L., and Li Volti, G. (2020). Oxidative Stress Markers and the Retinopathy of Prematurity. J. Clin. 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