Extramacular drusen are highly associated with age-related macular degeneration, but not with CFH and ARMS2 genotypes

Autor: Sandra Liakopoulos, Moritz Felsch, Lebriz Ersoy, Tina Schick, Bernd Kirchhof, A.I. den Hollander, S. Fauser, Carel B. Hoyng, D de Graft
Rok vydání: 2016
Předmět:
0301 basic medicine
Male
medicine.medical_specialty
Genotype
genetic structures
Fundus Oculi
Retinal Drusen
Audiology
Drusen
Polymorphism
Single Nucleotide
Retina
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
03 medical and health sciences
Cellular and Molecular Neuroscience
Macular Degeneration
0302 clinical medicine
Risk Factors
Ophthalmology
medicine
Humans
Fluorescein Angiography
Aged
Retrospective Studies
medicine.diagnostic_test
business.industry
Case-control study
Proteins
Diabetic retinopathy
DNA
Macular degeneration
medicine.disease
Fluorescein angiography
Sensory Systems
eye diseases
030104 developmental biology
Phenotype
Factor H
Complement Factor H
030221 ophthalmology & optometry
Maculopathy
Female
sense organs
business
Tomography
Optical Coherence
Retinopathy
Zdroj: British Journal of Ophthalmology, 100, 8, pp. 1047-51
British Journal of Ophthalmology, 100, 1047-51
ISSN: 0007-1161
Popis: Item does not contain fulltext 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=1.66x10(-13)). AMD (n=316) was strongly associated with CFH (p=1.78x10(-7)) and ARMS2 genotypes (p=1.67x10(-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.
Databáze: OpenAIRE
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