ArticleHuman molecular genetics2018
Genome-wide association analyses identify new loci influencing intraocular pressure.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes.PloS one · 2022Pooled it
- Genetic discovery using deep learning-derived optic nerve integrity phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Resistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels.Hypertension (Dallas, Tex. : 1979) · 2026Article
- Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.Nature genetics · 2026Article
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Genetic Architecture of Trans-Laminar Cribrosa Pressure Difference and Primary Open-Angle Glaucoma.Investigative ophthalmology & visual science · 2026Article
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Time-Dependent Glucocorticoid-Induced Transcriptomic Changes in Human Trabecular Meshwork and Schlemm's Canal Cells.Investigative ophthalmology & visual science · 2026Article
- Article
- Enhancing glaucoma prediction across ancestries: integrating functional annotation into multi-trait polygenic risk scores.Frontiers in genetics · 2026Article
- Time-dependent Glucocorticoid-Induced Transcriptomic Changes in Human Trabecular Meshwork and Schlemm's Canal.bioRxiv : the preprint server for biology · 2026Article
- Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms.Human molecular genetics · 2025Article
- Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment.bioRxiv : the preprint server for biology · 2025Article
- Associations Between Myopia and Brain Volumes: An Observational and Genetic Analysis.Investigative ophthalmology & visual science · 2025Observational
- Pyruvate and related energetic metabolites modulate resilience against high genetic risk for glaucoma.eLife · 2025Article
- 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
- Pyruvate and Related Energetic Metabolites Modulate Resilience Against High Genetic Risk for Glaucoma.bioRxiv : the preprint server for biology · 2025Article
- Dysregulation of septin cytoskeletal organization in the trabecular meshwork contributes to ocular hypertension.JCI insight · 2024Article
- Schlemm's canal-selective Tie2/TEK knockdown induces sustained ocular hypertension in adult mice.Experimental eye research · 2024Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors.
Funding
Abstract
Elevated intraocular pressure (IOP) is a significant risk factor for glaucoma, the leading cause of irreversible blindness worldwide. While previous studies have identified numerous genetic variants associated with IOP, these loci only explain a fraction of IOP heritability. Recently established of biobank repositories have resulted in large amounts of data, enabling the identification of the remaining heritability for complex traits. Here, we describe the largest genome-wide association study of IOP to date using participants of European ancestry from the UK Biobank. We identified 671 directly genotyped variants that are significantly associated with IOP (P < 5 × 10-8). In addition to 103 novel loci, the top ranked novel IOP genes are LMX1B, NR1H3, MADD and SEPT9. We replicated these findings in an external population and examined the pleiotropic nature of these loci. These discoveries not only further our understanding of the genetic architecture of IOP, but also shed new light on the biological processes underlying glaucoma.
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