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Lebriz Ersoy, Paula Scholz, Carel C B Hoyng, Anneke I Den Hollander, Thomas Langmann, Sascha Fauser; Genetic variants in ARMS2/HTRA1 and APOE loci are associated with hyperreflective foci present in early forms of age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2628.
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© ARVO (1962-2015); The Authors (2016-present)
To evaluate the association of hyperreflective foci (HF) observed in early and intermediate age-related macular degeneration (AMD) with known AMD risk alleles.
In this case-control study, HF were defined as lesions with reflectivity equal or higher than the retinal pigment epithelium band in spectral domain optical coherence tomography. HF in the outer nuclear layer and photoreceptor complex were evaluated in 518 individuals with early and intermediate AMD. Genotyping was performed for 22 single nucleotide polymorphisms (SNPs). Associations between AMD severity stages, HF and SNPs were determined by univariate logistic regression analyses.
HF (n≥10) were significantly associated with AMD severity and the association was strongest in bilateral intermediate AMD (odds ratio (OR): 41.78; p=3.57x10-7). HF were independently associated with ARMS2/HTRA1 rs10490924/rs11200638 (p=0.018, OR: 1.65) and APOE rs2075650 variants (p=0.009, OR: 2.17).
The presence of HF is related to AMD severity and associated with known risk polymorphisms in ARMS2/HTRA1 and APOE genes. Our findings support the concept that modification of the extracellular matrix or altered lipid metabolism triggered by genetic components may play a role in the formation of HF.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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