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The potential of DNA methylation as a biomarker for age-related macular degeneration: a systematic review

2026-02Artigo científico Acesso embargado
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorGhannai, Salema
dc.contributor.authorRibeiro, Edna
dc.contributor.authorPereira, Bruno
dc.contributor.authorBrito, Miguel
dc.contributor.authorCamacho, Pedro
dc.date.accessioned2026-03-24T09:58:10Z
dc.date.available2026-03-24T09:58:10Z
dc.date.issued2026-02
dc.descriptionThis work was also partially funded by FCT/MCTES UIDB/05608/2020 and UIDP/05608/2020, IDI&CA grant IPL/2022/MetAllAMD_ESTeSL by H&TRC- Health & Technology Research Center, ESTeSL- Escola Superior de Tecnologia da Saúde, and by Retina Institute of Lisbon (IRL). Protocol registration: PROSPERO CRD42024581510.
dc.description.abstractAge-related macular degeneration (AMD) is a multifactorial disease influenced by genetic and environmental factors, yet its pathogenesis remains incompletely understood. DNA methylation, increasingly recognized as a disease indicator, has been linked to AMD and may represent a promising biomarker or therapeutic target. This systematic review, conducted according to PRISMA 2020 guidelines, analyzed 13 studies addressing DNA methylation in AMD populations (2012-2025). Results revealed that 25% reported hypermethylation, 8% hypomethylation, and 41% both patterns, while 15% found no significant differences. Notably, one study described downregulation of DNA methyltransferases in advanced stages compared with early or intermediate AMD. Despite the limited evidence, findings support the relevance of methylation in AMD prognosis and therapy. Further research with robust methodologies is essential to clarify the role of epigenetic mechanisms in disease progression and to explore their potential for guiding targeted therapeutic strategieseng
dc.description.abstractRESUMEN La degeneración macular asociada a la edad (DMAE) es una enfermedad multifactorial influenciada por factores genéticos y ambientales, cuya patogénesis aún no se comprende completamente. La metilación del ADN, reconocida como un indicador de enfermedad, se ha vinculado con la DMAE y podría representar un biomarcador o un objetivo terapéutico prometedor. Esta revisión sistemática, realizada según las directrices PRISMA 2020, analizó 13 estudios publicados entre 2012 y 2025. Los resultados mostraron que el 25% informó hipermetilación, el 8% hipometilación y el 41% ambos patrones, mientras que el 15% no observó diferencias significativas. Un estudio destacó la disminución de ADN metiltransferasas en fases avanzadas en comparación con las etapas tempranas o intermedias. Aunque la evidencia sigue siendo limitada, estos hallazgos respaldan la relevancia de la metilación en el pronóstico y el tratamiento de la DMAE. Se requieren investigaciones más sólidas para comprender mejor su papel epigenético.spa
dc.identifier.citationGhannai S, Ribeiro E, Pereira B, Brito M, Camacho P. The potential of DNA methylation as a biomarker for age-related macular degeneration: a systematic review. Arch Soc Esp Oftalmol. 2026 February 23. In press, journal pre-proof.
dc.identifier.doi10.1016/j.oftale.2026.502521
dc.identifier.issn2173-5794
dc.identifier.urihttp://hdl.handle.net/10400.21/22735
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier BV
dc.relation.hasversionhttps://www.sciencedirect.com/science/article/pii/S2173579426000289
dc.relation.ispartofArchivos de la Sociedad Española de Oftalmología (English Edition)
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectAge-related macular degeneration
dc.subjectDNA methylation
dc.subjectMethylation patterns
dc.subjectAge-related macular degeneration biomarkers
dc.subjectEpigenética
dc.subjectDegeneración macular asociada a la edad
dc.subjectMetilación del ADN
dc.subjectPatrones de metilación
dc.subjectBiomarcadores de la degeneración macular asociada a la edad
dc.subjectFCT_UIDB/05608/2020
dc.subjectFCT_UIDP/05608/2020
dc.subjectIPL/2022/MetAllAMD_ESTeSL
dc.titleThe potential of DNA methylation as a biomarker for age-related macular degeneration: a systematic revieweng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage502521
oaire.citation.titleArchivos de la Sociedad Española de Oftalmología
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameRibeiro
person.familyNameCardoso Pereira
person.familyNameBrito
person.familyNameCamacho
person.givenNameEdna
person.givenNameBruno André
person.givenNameMiguel
person.givenNamePedro
person.identifier.ciencia-idC414-CDF2-D35A
person.identifier.ciencia-id1E1C-EB74-EB5E
person.identifier.ciencia-id231F-F341-7E93
person.identifier.ciencia-id271F-B4E1-014E
person.identifier.orcid0000-0003-1316-7750
person.identifier.orcid0000-0003-4955-1770
person.identifier.orcid0000-0001-6394-658X
person.identifier.orcid0000-0002-2986-5652
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
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relation.isAuthorOfPublication.latestForDiscoverya571bf34-bcda-49ca-b5cb-4cdecbb3d9c7

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