Universität zu Köln

Altay, Lebriz, Subiras, Xavier, de Motta, Laura Lores, Schick, Tina, Berghold, Aileen, Hoyng, Carel B., den Hollander, Anneke I., Fauser, Sascha, Sadda, Srinivas R. and Liakopoulos, Sandra (2020). Genetic and environmental risk factors for extramacular drusen. Mol. Vis., 26. S. 661 - 670. ATLANTA: MOLECULAR VISION. ISSN 1090-0535

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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 x 10-63, odds ratio [OR] 7.63). After adjustment for AMD, age (p = 0.06, OR 1.02), female gender (p = 3.34 x 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Altay, Lebriz UNSPECIFIED UNSPECIFIED UNSPECIFIED Subiras, Xavier UNSPECIFIED UNSPECIFIED UNSPECIFIED de Motta, Laura Lores UNSPECIFIED UNSPECIFIED UNSPECIFIED Schick, Tina UNSPECIFIED UNSPECIFIED UNSPECIFIED Berghold, Aileen UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyng, Carel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED den Hollander, Anneke I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fauser, Sascha UNSPECIFIED UNSPECIFIED UNSPECIFIED Sadda, Srinivas R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Liakopoulos, Sandra UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-315753
Journal or Publication Title:	Mol. Vis.
Volume:	26
Page Range:	S. 661 - 670
Date:	2020
Publisher:	MOLECULAR VISION
Place of Publication:	ATLANTA
ISSN:	1090-0535
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language AGE-RELATED MACULOPATHY; COMPLEMENT FACTOR-H; MACULAR DEGENERATION; BEAVER DAM; 5-YEAR INCIDENCE; PERIPHERAL AUTOFLUORESCENCE; SUNLIGHT EXPOSURE; 10-YEAR INCIDENCE; IRIS COLOR; DISEASE Multiple languages Biochemistry & Molecular Biology; Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31575