Genetic and environmental risk factors for extramacular drusen.

Autor:	Altay L; Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany., Subiras X; Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany.; Cologne Image Reading Center, Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany., Lorés de Motta L; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Schick T; Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany.; Cologne Image Reading Center, Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany.; AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany., Berghold A; Cologne Image Reading Center, Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany., Hoyng CB; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., den Hollander AI; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Fauser S; Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany., Sadda SR; Doheny Eye Institute, UCLA, Los Angeles, CA., Liakopoulos S; Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany.; Cologne Image Reading Center, Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Germany.
Jazyk:	angličtina
Zdroj:	Molecular vision [Mol Vis] 2020 Oct 04; Vol. 26, pp. 661-669. Date of Electronic Publication: 2020 Oct 04 (Print Publication: 2020).
Abstrakt:	Purpose: To analyze risk factors for extramacular drusen (EMD) in patients with age-related macular degeneration (AMD) and healthy control individuals. Methods: This case-control study included 1,520 patients from the prospective multicenter European Genetic Database (EUGENDA). Color fundus photographs and optical coherence tomography scans were evaluated for the presence of AMD and EMD. EMD was considered present if ten or fewer drusen including at least one intermediate-sized drusen were detected outside the macula. Association of EMD was evaluated with various genetic and non-genetic risk factors (31 single nucleotide polymorphisms, systemic complement activation, smoking, cardiovascular factors, and sunlight exposure) using logistic regression models adjusted for age, gender, and AMD. Results: EMD was found in 608 subjects (40%) and AMD in 763 (50%) of 1,520 participants. EMD was strongly associated with AMD (p = 2.83 × 10-63, odds ratio [OR] 7.63). After adjustment for AMD, age (p = 0.06, OR 1.02), female gender (p = 3.34 × 10-24, OR 4.44), history of sunlight exposure ≥ 8 h /day (p = 0.0004, OR 1.99), serum complement activation (p = 0.004, OR 1.61), and polymorphisms in ARMS2 (p = 0.00016, OR 1.43) and CFI (p = 0.043, OR 1.20) were identified as risk factors for EMD. The final prediction model including these variants showed an area under the curve of 0.820. Conclusions: The comprehensive analysis of various risk factors revealed a common genetic and pathological pathway of EMD with AMD. Future longitudinal studies are needed to evaluate the role of EMD in otherwise healthy subjects as an expanded phenotype of AMD. (Copyright © 2020 Molecular Vision.)
Databáze:	MEDLINE
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