ArticleOphthalmology science2023
Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases.
Article in Ophthalmology science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Integrative Evidence on Sesame Supplementation for Cardiometabolic Risk Factors Relevant to Retinopathy.International journal of medical sciences · 2026Pooled it
- SGLT2 inhibitor short-term efficacy and SYNTAX score association in coronary heart disease retinopathy: a propensity score matching study.Frontiers in cardiovascular medicine · 2025Trial
- Randomized 20-year infancy-onset dietary intervention, life-long cardiovascular risk factors and retinal microvasculature.European heart journal · 2024Trial
- A review of self-supervised imaging phenotypes for genome-wide association studies.Communications biology · 2026Review
- Multi-organ imaging genetics: towards an integrated view of brain, body and brain diseases.Nature reviews. Neurology · 2026Review
- Deep learning aging marker from retinal images unveils sex-specific clinical and genetic signatures.Nature communications · 2026Article
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Ethnicity-Stratified Normative Retinal Vascular Features from the UK Biobank Using Deep Learning.Ophthalmology science · 2026Article
- Structure-aware retinal disentanglement reveals the genetic architecture of ocular and systemic diseases.PLOS digital health · 2026Article
- Article
- Prediction of coronary artery disease using retinal optical coherence tomography angiography imaging and electronic health records: a multimodal machine learning approach.BMC cardiovascular disorders · 2026Article
- Cross-organ analysis reveals associations between vascular properties of the retina, the carotid and aortic arteries, and the brain.Communications medicine · 2026Article
- Mendelian randomization study implicates inflammaging biomarkers in retinal vasculature, cardiovascular diseases, and longevity.Science advances · 2025Article
- Associations of Cumulative Adulthood, Childhood and Lifelong Insulin With Adulthood Retinal Microvasculature.The Journal of clinical endocrinology and metabolism · 2025Article
- Causal Relationship Between Cataracts and Gastrointestinal Diseases: A Two-Sample Mendelian Randomization Study.Translational vision science & technology · 2025Article
- Retinal vascular dysfunction in the MthfrAlzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Phenotypic screening and genetic insights for predicting major vascular-related diseases using retinal imaging.NPJ digital medicine · 2025Article
- Comprehensive genome-wide analysis of retinal vessel caliber reveals microvascular-blood pressure pathways: advancing predictive, preventive, and personalized medicine.The EPMA journal · 2025Article
- Factors Associated With Retinal Vessel Traits in the Canadian Longitudinal Study on Aging.Investigative ophthalmology & visual science · 2025Article
- Predicting the Degree of Coronary Artery Stenosis Through Retinal Vascular Characteristics and Minimal Clinical Information.International journal of general medicine · 2025Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To identify novel susceptibility loci for retinal vascular tortuosity, to better understand the molecular mechanisms modulating this trait, and reveal causal relationships with diseases and their risk factors. Design: Genome-wide Association Studies (GWAS) of vascular tortuosity of retinal arteries and veins followed by replication meta-analysis and Mendelian randomization (MR). Participants: We analyzed 116 639 fundus images of suitable quality from 63 662 participants from 3 cohorts, namely the UK Biobank (n = 62 751), the Methods: Using a fully automated retina image processing pipeline to annotate vessels and a deep learning algorithm to determine the vessel type, we computed the median arterial, venous and combined vessel tortuosity measured by the Main Outcome Measure: We evaluated the genetic association of retinal tortuosity, measured by the distance factor. Results: Higher retinal tortuosity was significantly associated with higher incidence of angina, myocardial infarction, stroke, deep vein thrombosis, and hypertension. We identified 175 significantly associated genetic loci in the UK Biobank; 173 of these were novel and 4 replicated in our second, much smaller, metacohort. We estimated heritability at ∼25% using linkage disequilibrium score regression. Vessel type specific GWAS revealed 116 loci for arteries and 63 for veins. Genes with significant association signals included Conclusions: Several alleles associated with retinal vessel tortuosity suggest a common genetic architecture of this trait with ocular diseases (glaucoma, myopia), cardiovascular diseases, and metabolic syndrome. Our results shed new light on the genetics of vascular diseases and their pathomechanisms and highlight how GWASs and heritability can be used to improve phenotype extraction from high-dimensional data, such as images. Financial Disclosures: The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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