Trial reportOphthalmology2018
A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14.
Trial report in Ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- Trial
- Natural History of Drusenoid Pigment Epithelial Detachment Associated with Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report No. 17.Ophthalmology · 2019Trial
- Linking the microbiome to the complement system in geographic atrophy.NPJ genomic medicine · 2026Article
- Assessing mitochondrial phenotypes in a cybrid model of dry age-related macular degeneration.Molecular vision · 2026Article
- Genotype-Phenotype Correlations and Genetic Risk Assessment in Age-Related Macular Degeneration.Advances in experimental medicine and biology · 2025Review
- Levels of the HtrA1 Protein in Serum and Vitreous Humor Are Independent of Genetic Risk for Age-Related Macular Degeneration at the 10q26 Locus.Investigative ophthalmology & visual science · 2024Article
- Age-Related RPE changes in Wildtype C57BL/6J Mice between 2 and 32 Months.bioRxiv : the preprint server for biology · 2024Article
- Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.Human molecular genetics · 2024Article
- Recent Advances in Our Understanding of Age-Related Macular Degeneration: Mitochondrial Dysfunction, Redox Signaling, and the Complement System.Aging and disease · 2024Review
- Recent Developments in Gene Therapy for Neovascular Age-Related Macular Degeneration: A Review.Biomedicines · 2023Review
- Symmetry of Macular Fundus Features in Age-Related Macular Degeneration.Ophthalmology. Retina · 2023Article
- Laser-Induced Forward Transfer (LIFT) based Bioprinting of the Collagen I with Retina Photoreceptor Cells.Manufacturing letters · 2023Article
- Rethinking the potential and necessity of drug delivery systems in neovascular age-related macular degeneration therapy.Frontiers in bioengineering and biotechnology · 2023Review
- The Need for Artificial Intelligence Based Risk Factor Analysis for Age-Related Macular Degeneration: A Review.Diagnostics (Basel, Switzerland) · 2022Review
- Assessing bidirectional associations between cognitive impairment and late age-related macular degeneration in the Age-Related Eye Disease Study 2.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in Iranian population.Eye (London, England) · 2022Article
- Mitochondria-dependent phase separation of disease-relevant proteins drives pathological features of age-related macular degeneration.JCI insight · 2021Article
- Age-related macular degeneration.Nature reviews. Disease primers · 2021Review
- Age-Related Macular Degeneration: Epidemiology and Clinical Aspects.Advances in experimental medicine and biology · 2021Article
- Application of magnetic nanoparticles in nucleic acid detection.Journal of nanobiotechnology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
purposeAge-related macular degeneration (AMD), a multifactorial disease with variable phenotypic presentation, was associated with 52 single nucleotide polymorphisms (SNPs) at 34 loci in a genome-wide association study (GWAS). These genetic variants could modulate different biological pathways involved in AMD, contributing to phenotypic variability. To better understand the effects of these SNPs, we performed a deep phenotype association study (DeePAS) in the Age-Related Eye Disease Study 2 (AREDS2), followed by replication using AREDS participants, to identify genotype associations with AMD and non-AMD ocular and systemic phenotypes.
designCohort study.
participantsAREDS and AREDS2 participants.
methodsAREDS2 participants (discovery cohort) had detailed phenotyping for AMD; other eye conditions; cardiovascular, neurologic, gastrointestinal, and endocrine disease; cognitive function; serum nutrient levels; and others (total of 139 AMD and non-AMD phenotypes). Genotypes of the 52 GWAS SNPs were obtained. The DeePAS was performed by correlating the 52 SNPs to all phenotypes using logistic and linear regression models. Associations that reached Bonferroni-corrected statistical significance were replicated in AREDS.
main outcome measuresGenotype-phenotype associations.
resultsA total of 1776 AREDS2 participants had 5 years follow-up; 1435 AREDS participants had 10 years. The DeePAS revealed a significant association of the rs3750846 SNP at the ARMS2/HTRA1 locus with subretinal/sub-retinal pigment epithelial (RPE) hemorrhage related to neovascular AMD (odds ratio 1.55 [95% confidence interval 1.31-1.84], P = 2.67 × 10
conclusionsThe association of the SNP at the ARMS2/HTRA1 locus with subretinal/sub-RPE hemorrhage and poorer visual acuity and of SNPs at the CFH locus with drusen area may provide new insights in pathophysiological pathways underlying different stages of AMD.
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Registered trials
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.