ArticleNature communications2024
Phenotypic and genetic characteristics of retinal vascular parameters and their association with diseases.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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
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Who cites it
21 citing papers in PubMed.
- Mendelian randomization evidence refines retinal alterations in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Retinalysis-Vascx: An Explainable Software Toolbox for the Extraction of Retinal Vascular Biomarkers From Color Fundus Images.Translational vision science & technology · 2026Article
- Deep learning aging marker from retinal images unveils sex-specific clinical and genetic signatures.Nature communications · 2026Article
- Vascular Aging.Circulation · 2026Review
- Structure-aware retinal disentanglement reveals the genetic architecture of ocular and systemic diseases.PLOS digital health · 2026Article
- Phenotypic age acceleration and all-cause and cardiovascular mortality among U.S. adults at risk for heart failure.American heart journal plus : cardiology research and practice · 2026Article
- Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.Scientific reports · 2026Article
- Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses.medRxiv : the preprint server for health sciences · 2026Article
- Cross-organ analysis reveals associations between vascular properties of the retina, the carotid and aortic arteries, and the brain.Communications medicine · 2026Article
- Evaluation of Statistical Methods for Clustered Eye Data with Skewed Distribution.Ophthalmology science · 2026Article
- Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation.Science advances · 2026Article
- Cross-Trait Genome-Wide Association Study Identifies Shared Genetic Architecture Between COPD and Retinal Vascular Phenotypes.International journal of chronic obstructive pulmonary disease · 2026Article
- Unraveling causal pathways in retinal vein occlusion: a systematic review of Mendelian randomization studies.International journal of retina and vitreous · 2025Review
- Deep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset.Research square · 2025Article
- AI-Based Quantitative Assessment of Retinal Vascular Morphology in Circumscribed Choroidal Hemangioma.Ophthalmology and therapy · 2025Article
- REECAP: Contrastive learning of retinal aging reveals genetic loci linking morphology to eye disease.medRxiv : the preprint server for health sciences · 2025Article
- AI-informed retinal biomarkers predict 10-year risk of onset of multiple hematological malignancies.European journal of cancer (Oxford, England : 1990) · 2025Article
- Development and Validation of Polygenic Scores for Retinal Vessel Calibers.Investigative ophthalmology & visual science · 2025Article
- VascX Models: Deep Ensembles for Retinal Vascular Analysis From Color Fundus Images.Translational vision science & technology · 2025Article
- Predicting Visual Acuity after Retinal Vein Occlusion Anti-VEGF Treatment: Development and Validation of an Interpretable Machine Learning Model.Journal of medical systems · 2025Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
Fundus images allow for non-invasive assessment of the retinal vasculature whose features provide important information on health. Using a fully automated image processing pipeline, we extract 17 different morphological vascular phenotypes, including median vessels diameter, diameter variability, main temporal angles, vascular density, central retinal equivalents, the number of bifurcations, and tortuosity, from over 130,000 fundus images of close to 72,000 UK Biobank subjects. We perform genome-wide association studies of these phenotypes. From this, we estimate their heritabilities, ranging between 5 and 25%, and genetic cross-phenotype correlations, which mostly mirror the corresponding phenotypic correlations, but tend to be slightly larger. Projecting our genetic association signals onto genes and pathways reveals remarkably low overlap suggesting largely decoupled mechanisms modulating the different phenotypes. We find that diameter variability, especially for the veins, associates with diseases including heart attack, pulmonary embolism, and age of death. Mendelian Randomization analysis suggests a causal influence of blood pressure and body mass index on retinal vessel morphology, among other results. We validate key findings in two independent smaller cohorts. Our analyses provide evidence that large-scale analysis of image-derived vascular phenotypes has sufficient power for obtaining functional and causal insights into the processes modulating the retinal vasculature.
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Registered trials
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