ArticleNature genetics2023
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 5 of them syntheses that pooled it.
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Who cites it
96 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- CPNE1: A novel therapeutic target for myopia progression - from genetic GWAS discovery to functional validation in vitro and vivo.Journal of translational medicine · 2026Pooled it
- Large-scale multi-trait genome-wide analysis for inflammatory bowel disease reveals new insights into its molecular mechanisms and emphasizes the roles of systemic immune regulation.Briefings in bioinformatics · 2025Pooled it
- Pooled it
- Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma.Nature communications · 2025Pooled it
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- Schlemm's Canal Development and Implications for Glaucoma Treatment.Annual review of vision science · 2026Review
- Eyes of Africa: The Genetics of Blindness. Baseline characteristics, ocular features, and associations with glaucoma in continental Africans.Eye (London, England) · 2026Article
- A Whole-Genome Sequence Genome-Wide Association Study inOphthalmology science · 2026Article
- Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- A Human Pharmacogenomics Approach Provides Insight Into the Pathogenesis and Pathophysiology of Steroid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- Multitrait analysis of genome-wide association studies expands eosinophilic esophagitis genetic susceptibility and polygenic risk scores.The Journal of allergy and clinical immunology · 2026Article
- Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.Nature communications · 2026Article
- Article
- Calcium signaling pathway implicates a shared genetic basis between psychiatric and cardiovascular diseases.Translational psychiatry · 2026Article
- Genetic risk score to enhance glaucoma case detection: a prospective double-blind screening study (EyeLife) in the population-based Lifelines cohort.European journal of epidemiology · 2026Article
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- Spatial Decomposition of Longitudinal RNFL Maps Reveals Distinct Modes of Glaucomatous Progression With Structure-Function and Genetic Signatures.Investigative ophthalmology & visual science · 2026Article
- Neuroinflammation in glaucoma: a myriad of cellular pathways and players.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Residential Greenspace and Domestic Gardens, Genetic Predisposition, and Incident Glaucoma: A Prospective Cohort Study.GeoHealth · 2026Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
31 authors.
Funding
Abstract
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease. Previous genome-wide association studies have identified over 100 loci for the most common form, primary open-angle glaucoma. Two key glaucoma-associated traits also show high heritability: intraocular pressure and optic nerve head excavation damage quantified as the vertical cup-to-disc ratio. Here, since much of glaucoma heritability remains unexplained, we conducted a large-scale multitrait genome-wide association study in participants of European ancestry combining primary open-angle glaucoma and its two associated traits (total sample size over 600,000) to substantially improve genetic discovery power (263 loci). We further increased our power by then employing a multiancestry approach, which increased the number of independent risk loci to 312, with the vast majority replicating in a large independent cohort from 23andMe, Inc. (total sample size over 2.8 million; 296 loci replicated at P < 0.05, 240 after Bonferroni correction). Leveraging multiomics datasets, we identified many potential druggable genes, including neuro-protection targets likely to act via the optic nerve, a key advance for glaucoma because all existing drugs only target intraocular pressure. We further used Mendelian randomization and genetic correlation-based approaches to identify novel links to other complex traits, including immune-related diseases such as multiple sclerosis and systemic lupus erythematosus.
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