Academic Journal
Distinct Genetic Profiles Associated With Subretinal Drusenoid Deposits and Cardiovascular Risk in Age-Related Macular Degeneration.
| Τίτλος: | Distinct Genetic Profiles Associated With Subretinal Drusenoid Deposits and Cardiovascular Risk in Age-Related Macular Degeneration. |
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| Συγγραφείς: | Lishinsky-Fischer N; Ophthalmology Department, Hadassah Medical Center, Jerusalem, Israel., Jaskoll S; Ophthalmology Department, Hadassah Medical Center, Jerusalem, Israel., Kramer A; Ophthalmology Department, Hadassah Medical Center, Jerusalem, Israel., Grunin M; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.; Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Israel., Elbaz-Hayoun S; Ophthalmology Department, Hadassah Medical Center, Jerusalem, Israel., Rinsky B; Ophthalmology Department, Hadassah Medical Center, Jerusalem, Israel., Chowers I; Ophthalmology Department, Hadassah Medical Center, Jerusalem, Israel., Levy J; Ophthalmology Department, Hadassah Medical Center, Jerusalem, Israel. |
| Πηγή: | Translational vision science & technology [Transl Vis Sci Technol] 2026 Mar 02; Vol. 15 (3), pp. 27. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Association for Research in Vision and Ophthalmology Country of Publication: United States NLM ID: 101595919 Publication Model: Print Cited Medium: Internet ISSN: 2164-2591 (Electronic) Linking ISSN: 21642591 NLM ISO Abbreviation: Transl Vis Sci Technol Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Rockville, Md. : Association for Research in Vision and Ophthalmology |
| Ιατρικοί όροι (MeSH): | Macular Degeneration*/genetics , Macular Degeneration*/complications , Polymorphism, Single Nucleotide*/genetics , Cardiovascular Diseases*/genetics , Retinal Drusen*/genetics , Genetic Profile*, Humans ; Female ; Retrospective Studies ; Aged ; Male ; Gene Frequency ; Genetic Predisposition to Disease ; Tomography, Optical Coherence ; Genotype ; Genetic Risk Score ; Aged, 80 and over ; Risk Factors ; Heart Disease Risk Factors ; Middle Aged |
| Περίληψη: | Purpose: Subretinal drusenoid deposits (SDDs) are increasingly recognized as a distinct phenotype in age-related macular degeneration (AMD) and may be linked to cardiovascular disease (CVD). This study aims to explore whether AMD patients with SDDs carry a distinct genetic profile related to CVD risk compared to those without SDDs. Methods: In a retrospective cohort of 459 AMD patients with genotyping and spectral-domain OCT data, we annotated SDD status and extracted cardiovascular diagnoses and procedures from electronic medical records. Fifty-two AMD-associated single-nucleotide polymorphisms (SNPs) were used to calculate weighted genetic risk scores (GRSs), and minor allele frequencies (MAFs) were compared between groups. Principal component analysis (PCA) was performed to assess clustering by SDD status within CVD subgroups. Results: Patients with SDDs exhibited distinct MAFs in several SNPs, including CFH, ARMS2, COL4A3, and ARHGAP21. Certain variants were more strongly associated with cardiovascular subtypes in patients with SDDs compared to those without. GRSs related to lipid metabolism and complement pathways were higher among SDD-positive patients within selected CVD subgroups. PCA suggested modest but significant separation between genetic profiles of patients with and without SDDs. Conclusions: AMD patients with SDDs show distinct genetic signatures potentially relevant to cardiovascular health. These findings suggest that SDDs may represent a genetically and systemically unique AMD phenotype. Further investigation is warranted to understand the shared pathophysiology and potential for systemic risk stratification. Translational Relevance: Integrating OCT phenotyping and genomic profiling in AMD may uncover systemic disease associations with implications for precision medicine. |
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| Entry Date(s): | Date Created: 20260325 Date Completed: 20260713 Latest Revision: 20260813 |
| Update Code: | 20260813 |
| PubMed Central ID: | PMC13034995 |
| DOI: | 10.1167/tvst.15.3.27 |
| PMID: | 41879420 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 2164-2591 |
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| DOI: | 10.1167/tvst.15.3.27 |