ArticleInvestigative ophthalmology & visual science2016
Genetic Association Analysis of Drusen Progression.
Article in Investigative ophthalmology & visual science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Natural History of Drusenoid Pigment Epithelial Detachment Associated with Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report No. 17.Ophthalmology · 2019Trial
- Artificial intelligence-driven diagnosis for age-related macular degeneration bridging pathology and engineering: a survey.International ophthalmology · 2025Review
- Diverse-Ancestry GWAS of Age-Related Macular Degeneration on 16,108 Examined Cases and 18,038 Controls.Investigative ophthalmology & visual science · 2025Article
- Blue Light-Induced Mitochondrial Oxidative Damage Underlay Retinal Pigment Epithelial Cell Apoptosis.International journal of molecular sciences · 2024Article
- Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2022Article
- Gene-level association analysis of ordinal traits with functional ordinal logistic regressions.Genetic epidemiology · 2022Article
- Data Science in Translational Vision Science and Technology.Translational vision science & technology · 2021Article
- Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology.Translational vision science & technology · 2021Article
- Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.Investigative ophthalmology & visual science · 2020Article
- Risk factors for progression of age-related macular degeneration.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2020Review
- Genetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
purposeAge-related macular degeneration is a common form of vision loss affecting older adults. The etiology of AMD is multifactorial and is influenced by environmental and genetic risk factors. In this study, we examine how 19 common risk variants contribute to drusen progression, a hallmark of AMD pathogenesis.
methodsExome chip data was made available through the International AMD Genomics Consortium (IAMDGC). Drusen quantification was carried out with color fundus photographs using an automated drusen detection and quantification algorithm. A genetic risk score (GRS) was calculated per subject by summing risk allele counts at 19 common genetic risk variants weighted by their respective effect sizes. Pathway analysis of drusen progression was carried out with the software package Pathway Analysis by Randomization Incorporating Structure.
resultsWe observed significant correlation with drusen baseline area and the GRS in the age-related eye disease study (AREDS) dataset (ρ = 0.175, P = 0.006). Measures of association were not statistically significant between drusen progression and the GRS (P = 0.54). Pathway analysis revealed the cell adhesion molecules pathway as the most highly significant pathway associated with drusen progression (corrected P = 0.02).
conclusionsIn this study, we explored the potential influence of known common AMD genetic risk factors on drusen progression. Our results from the GRS analysis showed association of increasing genetic burden (from 19 AMD associated loci) to baseline drusen load but not drusen progression in the AREDS dataset while pathway analysis suggests additional genetic contributors to AMD risk.
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