ArticleAmerican journal of human genetics2021
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.Nature communications · 2024Pooled it
- Taste Genetics and Oral Health Symptoms in the Canadian Longitudinal Study on Aging.International journal of molecular sciences · 2026Article
- Genetic discovery using deep learning-derived optic nerve integrity phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- Structure-aware retinal disentanglement reveals the genetic architecture of ocular and systemic diseases.PLOS digital health · 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
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Multimodal deep learning approaches for improving polygenic risk scores with imaging data.Scientific reports · 2026Article
- Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation.Science advances · 2026Article
- Enhancing glaucoma prediction across ancestries: integrating functional annotation into multi-trait polygenic risk scores.Frontiers in genetics · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.medRxiv : the preprint server for health sciences · 2025Article
- Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms.Human molecular genetics · 2025Article
- Multimodal Prediction of Primary Open-Angle Glaucoma Using Polygenic Risk Scores and Clinical Features in a High-Risk African Ancestry Cohort.medRxiv : the preprint server for health sciences · 2025Article
- Genetic Variations in Bitter Taste Receptors and COVID-19 in the Canadian Longitudinal Study on Aging.Biomedicines · 2025Article
- Association between leukocyte telomere length and incident glaucoma: A prospective UK biobank study.Eye (London, England) · 2025Article
- Dysfunctional one-carbon metabolism identifies vitamins BCell reports. Medicine · 2025Article
- Artificial Intelligence in Glaucoma: Advances in Diagnosis, Progression Forecasting, and Surgical Outcome Prediction.International journal of molecular sciences · 2025Review
- Progress in Translating Glaucoma Genetics Into the Clinic: A Review.Clinical & experimental ophthalmology · 2025Review
- Multi-trait Polygenic Probability Risk Score Enhances Glaucoma Prediction Across Ancestries.medRxiv : the preprint server for health sciences · 2025Article
- Genetic risk factors associated with ocular perfusion pressure in primary open-angle glaucoma.Human genomics · 2025Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Cupping of the optic nerve head, a highly heritable trait, is a hallmark of glaucomatous optic neuropathy. Two key parameters are vertical cup-to-disc ratio (VCDR) and vertical disc diameter (VDD). However, manual assessment often suffers from poor accuracy and is time intensive. Here, we show convolutional neural network models can accurately estimate VCDR and VDD for 282,100 images from both UK Biobank and an independent study (Canadian Longitudinal Study on Aging), enabling cross-ancestry epidemiological studies and new genetic discovery for these optic nerve head parameters. Using the AI approach, we perform a systematic comparison of the distribution of VCDR and VDD and compare these with intraocular pressure and glaucoma diagnoses across various genetically determined ancestries, which provides an explanation for the high rates of normal tension glaucoma in East Asia. We then used the large number of AI gradings to conduct a more powerful genome-wide association study (GWAS) of optic nerve head parameters. Using the AI-based gradings increased estimates of heritability by ∼50% for VCDR and VDD. Our GWAS identified more than 200 loci associated with both VCDR and VDD (double the number of loci from previous studies) and uncovered dozens of biological pathways; many of the loci we discovered also confer risk for glaucoma.
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