ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2014
The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- ABCA1 rs1883025 polymorphism and risk of age-related macular degeneration.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Pooled it
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- Fecal Microbial Profiles and Short-Chain Fatty Acid/Bile Acid Metabolomics in Patients With Age-Related Macular Degeneration: A Pilot Study.Investigative ophthalmology & visual science · 2025Article
- Influence of Clinical and Genetic Factors on the Progression of Age-Related Macular Degeneration: A 3-Year Follow-Up.Journal of clinical medicine · 2023Article
- Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.Investigative ophthalmology & visual science · 2022Article
- The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.International journal of molecular sciences · 2021Review
- The Effect of Genetic Variants Associated With Age-Related Macular Degeneration Varies With Age.Investigative ophthalmology & visual science · 2020Article
- Hypothetical pathogenesis of age-related macular degeneration and pachychoroid diseases derived from their genetic characteristics.Japanese journal of ophthalmology · 2020Review
- Characteristics of Pachychoroid Diseases and Age-Related Macular Degeneration: Multimodal Imaging and Genetic Backgrounds.Journal of clinical medicine · 2020Review
- Risk factors for progression of age-related macular degeneration.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2020Review
- Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.Scientific reports · 2018Article
- Complement factor H in AMD: Bridging genetic associations and pathobiology.Progress in retinal and eye research · 2018Review
- Changes of macular pigment optical density in elderly eyes: a longitudinal analysis from the MARS study.International journal of retina and vitreous · 2016Article
- Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages.PloS one · 2016Article
- Regulation of age-related macular degeneration-like pathology by complement factor H.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Small Drusen and Age-Related Macular Degeneration: The Beaver Dam Eye Study.Journal of clinical medicine · 2015Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGenetic factors contribute to the development and progression of age-related macular degeneration (AMD). We aimed to assess the association of drusen as phenotypic characteristics of early AMD and their progression with polymorphisms in the CFH, ABCA1, and ARMS2 genes.
methodsIn the Münster Aging and Retina Study (MARS), drusen were detected in 406 patients with early AMD and 170 healthy controls according to the International Classification using fundus photographs, with a follow-up examination after 2.6 years (median). Six drusen features were assessed: drusen number (</≥20); confluence of drusen (</≥50 %), largest drusen size (</≥175 μm); area occupied by drusen (</≥10 %); most frequent drusen size (</≥175 μm), and presence of soft, indistinct drusen (no/yes). Based on these features, an unweighted summary drusen severity score (DSS; categorized in "low", "intermediate" and "high") was calculated. The relationship of each drusen feature and the DSS with CFH rs1061170, ABCA1 rs1883025, and ARMS2 rs10490924 at baseline and after 2.6 years was analyzed using multivariate logistic regression models.
resultsCross-sectionally, each drusen feature was associated with a higher frequency of the CFH and ARMS2 risk variants. Compared to healthy eyes, the CFH risk variant was more common in eyes with early as well as advanced drusen features, while the ARMS2 variant was only associated with advanced drusen. After 2.6 years, 43 % of the eyes showed a progression of at least 1 unit in the DSS. The progression from low to higher DSS was inversely associated with ABCA1 (OR = 0.54), and the progression from intermediate to high DSS was positively related to CFH rs1061170 (OR = 2.3; p < 0.05 for each).
conclusionsVariants in CFH, ABCA1, and ARMS2 genes are related to the presence and progression of drusen in early AMD. CFH and, inversely, ABCA1 seem to be involved in early drusen development, while the role of ARMS2 is more pronounced in advanced stages of early AMD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.