L Ersoy1, T Schick1, D de Graft2, M Felsch3, C B Hoyng4, A I den Hollander5, B Kirchhof6, S Fauser6, S Liakopoulos1. 1. Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany Department of Ophthalmology, Cologne Image Reading Center, University Hospital of Cologne, Cologne, Germany. 2. Department of Ophthalmology, Cologne Image Reading Center, University Hospital of Cologne, Cologne, Germany. 3. Institute of Medical Statistics, Informatics and Epidemiology, University of Cologne, Cologne, Germany. 4. Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. 5. Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. 6. Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
Abstract
BACKGROUND: To evaluate the association of extramacular drusen (EMD) with age-related macular degeneration (AMD) and with complement factor H (CFH rs1061170) and age-related maculopathy susceptibility 2 (ARMS2 rs10490924) polymorphisms in individuals with and without AMD. METHODS: In this case-control study, AMD staging was performed in 622 individuals. EMD were defined as ≥10 drusen (including ≥1 intermediate drusen) outside the Early Treatment of Diabetic Retinopathy Study Grid within field 2. Genotype associations for CFH and ARMS2 variants were assessed using logistic regression analysis. RESULTS: EMD (n=213) showed a strong association with AMD (OR=3.85; p=1.66×10(-13)). AMD (n=316) was strongly associated with CFH (p=1.78×10(-7)) and ARMS2 genotypes (p=1.67×10(-8)). After adjustment for AMD, age and gender, EMD were neither associated with CFH (p=0.11) nor with ARMS2 (p=0.45) genotypes. In individuals without AMD, the groups with and without EMD showed no differences regarding both genetic variants. CONCLUSIONS: The strong association between drusen within and outside of the macula suggests a common pathogenesis. However, EMD were not AMD-independently associated with CFH or ARMS2 genotypes. Our results indicate that patients without AMD but with EMD can serve as controls in studies evaluating AMD risk factors. Further studies are required to elucidate the aetiology and clinical relevance of EMD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
BACKGROUND: To evaluate the association of extramacular drusen (EMD) with age-related macular degeneration (AMD) and with complement factor H (CFHrs1061170) and age-related maculopathy susceptibility 2 (ARMS2rs10490924) polymorphisms in individuals with and without AMD. METHODS: In this case-control study, AMD staging was performed in 622 individuals. EMD were defined as ≥10 drusen (including ≥1 intermediate drusen) outside the Early Treatment of Diabetic Retinopathy Study Grid within field 2. Genotype associations for CFH and ARMS2 variants were assessed using logistic regression analysis. RESULTS: EMD (n=213) showed a strong association with AMD (OR=3.85; p=1.66×10(-13)). AMD (n=316) was strongly associated with CFH (p=1.78×10(-7)) and ARMS2 genotypes (p=1.67×10(-8)). After adjustment for AMD, age and gender, EMD were neither associated with CFH (p=0.11) nor with ARMS2 (p=0.45) genotypes. In individuals without AMD, the groups with and without EMD showed no differences regarding both genetic variants. CONCLUSIONS: The strong association between drusen within and outside of the macula suggests a common pathogenesis. However, EMD were not AMD-independently associated with CFH or ARMS2 genotypes. Our results indicate that patients without AMD but with EMD can serve as controls in studies evaluating AMD risk factors. Further studies are required to elucidate the aetiology and clinical relevance of EMD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Authors: Glenn Yiu; Eric Tieu; Christian Munevar; Brittany Wong; David Cunefare; Sina Farsiu; Laura Garzel; Jeffrey Roberts; Sara M Thomasy Journal: Sci Rep Date: 2017-11-03 Impact factor: 4.379
Authors: Lebriz Altay; Xavier Subiras; Laura Lorés de Motta; Tina Schick; Aileen Berghold; Carel B Hoyng; Anneke I den Hollander; Sascha Fauser; Srinivas R Sadda; Sandra Liakopoulos Journal: Mol Vis Date: 2020-10-04 Impact factor: 2.367