ReviewAnnual review of genomics and human genetics2014
Age-related macular degeneration: genetics and biology coming together.
Review in Annual review of genomics and human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 309 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
309 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Analysis of biofluid metabolomic profiles to the discovery of biomarkers in age-related macular degeneration.BMJ open ophthalmology · 2024Pooled it
- Pooled it
- Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes.eLife · 2020Pooled it
- HTRA1 rs11200638 variant and AMD risk from a comprehensive analysis about 15,316 subjects.BMC medical genetics · 2020Pooled it
- Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis.Bioscience reports · 2020Pooled it
- A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization.International journal of molecular sciences · 2020Pooled it
- Aqueous proteins help predict the response of patients with neovascular age-related macular degeneration to anti-VEGF therapy.The Journal of clinical investigation · 2022Trial
- Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.Ophthalmology · 2021Trial
- The Association of Aspirin Use with Age-Related Macular Degeneration Progression in the Age-Related Eye Disease Studies: Age-Related Eye Disease Study 2 Report No. 20.Ophthalmology · 2019Trial
- Efficacy and Safety of Lampalizumab for Geographic Atrophy Due to Age-Related Macular Degeneration: Chroma and Spectri Phase 3 Randomized Clinical Trials.JAMA ophthalmology · 2018Trial
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Integrative genomic and proteomic analyses identify candidate genetic loci and genetically supported proteins in age-related macular degeneration.Eye and vision (London, England) · 2026Article
- Quantitative Evaluation of Geographic Atrophy Progression Using Geographic Atrophy Lesion Front Displacement.Investigative ophthalmology & visual science · 2026Article
- An siRNA targetingMolecular therapy. Nucleic acids · 2026Article
- Monitoring of Geographic Atrophy Progression in Age-Related Macular Degeneration Using Fluorescence Lifetime Imaging Ophthalmoscopy.Investigative ophthalmology & visual science · 2026Article
- Metabolic and Genetic Alterations in Early and Exudative Age-Related Macular Degeneration: Inosine, Amino Acids, andInternational journal of molecular sciences · 2026Article
- Trends, hotspots, and future directions of inflammation in age-related macular degeneration: A 20-year bibliometric study.Medicine · 2026Article
- Choriocapillaris Flow Signal Deficits Are Associated With AMD Onset and Early Progression Over Three Years: ALSTAR2 Follow-Up.Investigative ophthalmology & visual science · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- TEP-1, a glial thioester protein is required for cilia organization and intraflagellar transport in ensheathed sensory neurons inMolecular biology of the cell · 2026Article
249 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Genetic and genomic studies have enhanced our understanding of complex neurodegenerative diseases that exert a devastating impact on individuals and society. One such disease, age-related macular degeneration (AMD), is a major cause of progressive and debilitating visual impairment. Since the pioneering discovery in 2005 of complement factor H (CFH) as a major AMD susceptibility gene, extensive investigations have confirmed 19 additional genetic risk loci, and more are anticipated. In addition to common variants identified by now-conventional genome-wide association studies, targeted genomic sequencing and exome-chip analyses are uncovering rare variant alleles of high impact. Here, we provide a critical review of the ongoing genetic studies and of common and rare risk variants at a total of 20 susceptibility loci, which together explain 40-60% of the disease heritability but provide limited power for diagnostic testing of disease risk. Identification of these susceptibility loci has begun to untangle the complex biological pathways underlying AMD pathophysiology, pointing to new testable paradigms for treatment.
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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.