Association between the ARMS2 rs10490924 risk genotype and dry-age related macular degeneration patients with and without reticular pseudodrusen in a Turkish population: findings from a study conducted at a tertiary clinic

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dc.authorid0000-0001-6929-6645
dc.authorid0000-0002-8268-536X
dc.authorid0000-0001-6359-1600
dc.authorid0000-0002-1142-3872
dc.authorid0000-0002-7048-9599
dc.authorid0000-0003-2785-9344
dc.contributor.authorFurundaoturan, Onur
dc.contributor.authorDegirmenci, Cumali
dc.contributor.authorAfrashi, Filiz
dc.contributor.authorAtik, Tahir
dc.contributor.authorAkkin, Cezmi
dc.contributor.authorMentes, Jale
dc.contributor.authorNalcaci, Serhad
dc.date.accessioned2025-03-14T07:14:35Z
dc.date.available2025-03-14T07:14:35Z
dc.date.issued2024
dc.departmentEge Üniversitesi, Tıp Fakültesi, Cerrahi Bilimler Bölümü, Göz Hastalıkları Ana Bilim Dalı
dc.description.abstractPurposeTo evaluate the relationship between the presence of reticular pseudodrusen (RPD) and the risk allele of ARMS2 rs10490924 variation in dry-AMD patients by using multimodal imaging. Also, to compare patients with and without RPD and healthy volunteers according to the distribution of the risk allele.MethodsIn this cross-sectional study, dry-AMD patients with (Group A, n = 50) and without (Group B, n = 50) RPD and healthy volunteers (Group C, n = 50) were enrolled. After detailed ophthalmologic examination, confocal scanning laser ophthalmoscope (Heidelberg, Germany) was used to acquire near infra-red (NIR) imaging for RPD and the diagnosis was confirmed by Spectral Domain-Optical coherence tomography (Heidelberg, Germany). In silent choroidal neovascularization suspicion, optical coherence tomography angiography (Optovue, Fremont, CA) was performed and those were excluded. For genetic assessment, peripheric blood sampling was performed. Using next-generation sequencing technique (NGS), ARMS2 rs10490924 single nucleotide polymorphism was investigated. Groups were compared according to the distribution of the risky allele.Results150 eyes of 150 participants were included. In Group A, 42% (21) of patients were heterozygous for the T risk allele, 30% (15) were homozygous, and the risk allele was not detected in 28% (14). In Group B, 44% (22) of patients were heterozygous, 17% (8) were homozygous, and the risk allele was not detected in 39% (20). In Group C, 30% (15) of participants were heterozygous, 4% (2) were homozygous, and variation was not observed in 64% (32). Homozygous participants in Group A were significantly higher than other two groups (Group A-B: OR = 2.67, 95% CI: 0.895, 8.020; Group A-C: OR = 17.14, 95% CI: 3.449, 85.208) while in Group B, homozygous individuals were higher than Group C (respectively, p values 0.0039, 0.0002, 0.013). T risky allele frequencies were 51%, 38%, and 20% in Groups A, B, and C, respectively, which was significantly higher in Group A (p = 0.02).ConclusionGenetic influence in AMD is inevitable while certain differences according to different ethnicities may apply. Association of genetic variations and imaging findings like RPD is lacking among literature for different populations. By the aspect of this study, the relationship between RPD and ARMS2 rs10490924 polymorphism in dry-AMD patients were highlighted among Turkish population by using multimodal imaging for the first time.Key messagesWhat is Known?Pathophysiology of age-related macular degeneration is influenced from multiple factors including single nucleotide polymorphisms. The variations of are suspected well in the current literature.Reticular pseudodrusen is related to advanced stages of age related macular degeneration disease.What is New?The rs10490924 risk genotype is associated with the presence of reticular pseudodrusen in dry age related macular degeneration patients.Homozygous genotype of T risk allele is evaluated significantly higher in dry age related macular degeneration patients with reticular pseudodrusen.Key messagesWhat is Known?Pathophysiology of age-related macular degeneration is influenced from multiple factors including single nucleotide polymorphisms. The variations of are suspected well in the current literature.Reticular pseudodrusen is related to advanced stages of age related macular degeneration disease.What is New?The rs10490924 risk genotype is associated with the presence of reticular pseudodrusen in dry age related macular degeneration patients. Homozygous genotype of T risk allele is evaluated significantly higher in dry age related macular degeneration patients with reticular pseudodrusen.
dc.identifier.citationFurundaoturan, O., Degirmenci, C., Afrashi, F., Atik, T., Akkin, C., Mentes, J., & Nalcaci, S. (2024). Association between the ARMS2 rs10490924 risk genotype and dry-age related macular degeneration patients with and without reticular pseudodrusen in a turkish population: Findings from a study conducted at a tertiary clinic. Graefe's Archive for Clinical and Experimental Ophthalmology.
dc.identifier.doi10.1007/s00417-024-06699-0
dc.identifier.endpage7
dc.identifier.issn0721-832X
dc.identifier.issueDec
dc.identifier.pmid39601844
dc.identifier.scopus2-s2.0-85210509027
dc.identifier.scopusqualityQ1
dc.identifier.startpage1
dc.identifier.urihttps://doi.org/10.1007/s00417-024-06699-0
dc.identifier.urihttps://hdl.handle.net/11454/116711
dc.identifier.wosWOS:001365153000001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorFurundaoturan, Onur
dc.institutionauthorDegirmenci, Cumali
dc.institutionauthorAfrashi, Filiz
dc.institutionauthorAtik, Tahir
dc.institutionauthorAkkin, Cezmi
dc.institutionauthorMentes, Jale
dc.institutionauthorNalcaci, Serhad
dc.institutionauthorid0000-0001-6929-6645
dc.institutionauthorid0000-0002-8268-536X
dc.institutionauthorid0000-0001-6359-1600
dc.institutionauthorid0000-0002-1142-3872
dc.institutionauthorid0000-0002-7048-9599
dc.institutionauthorid0000-0003-2785-9344
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofGraefe's Archive for Clinical and Experimental Ophthalmology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectAge related macular degeneration
dc.subjectARMS2
dc.subjectReticular pseudodrusen
dc.subjectRs10490924 polymorphism
dc.titleAssociation between the ARMS2 rs10490924 risk genotype and dry-age related macular degeneration patients with and without reticular pseudodrusen in a Turkish population: findings from a study conducted at a tertiary clinic
dc.typeArticle

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