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Genetic and environmental risk factors for extramacular drusen
- Source :
- Molecular Vision
- Publication Year :
- 2020
- Publisher :
- Molecular Vision, 2020.
-
Abstract
- 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.
- Subjects :
- Aged, 80 and over
Male
genetic structures
Retinal Drusen
Complement C3
Middle Aged
Polymorphism, Single Nucleotide
eye diseases
Macular Degeneration
Logistic Models
Phenotype
Complement C3d
Risk Factors
Case-Control Studies
Databases, Genetic
Humans
Female
Macula Lutea
Prospective Studies
sense organs
Tomography, Optical Coherence
Aged
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 10900535
- Volume :
- 26
- Database :
- OpenAIRE
- Journal :
- Molecular Vision
- Accession number :
- edsair.pmid.dedup....99e5ea14b562677d6aff7c1c1f2a78e2