ArticleNature communications2022
Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma.Nature communications · 2025Pooled it
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- Causal Association between Iritis or Uveitis and Glaucoma: A Two-Sample Mendelian Randomisation Study.Genes · 2023Pooled it
- A Whole-Genome Sequence Genome-Wide Association Study inOphthalmology science · 2026Article
- Artificial Intelligence-Driven Multimodal Prediction of 10-Year Incident Glaucoma Integrating Genetic and Deep Learning-Derived Imaging Features.Ophthalmology science · 2026Article
- Association of FunctionalInternational journal of molecular sciences · 2026Article
- Genetic Architecture of Trans-Laminar Cribrosa Pressure Difference and Primary Open-Angle Glaucoma.Investigative ophthalmology & visual science · 2026Article
- Enhancing glaucoma prediction across ancestries: integrating functional annotation into multi-trait polygenic risk scores.Frontiers in genetics · 2026Article
- Mapping rare protein-coding variants on multi-organ imaging traits.Nature communications · 2025Article
- The Role of Metabolites in CSF on NAFLD Development: A Mendelian Randomisation Analysis.Endocrinology, diabetes & metabolism · 2025Article
- Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.Investigative ophthalmology & visual science · 2025Article
- Multi-trait Polygenic Probability Risk Score Enhances Glaucoma Prediction Across Ancestries.medRxiv : the preprint server for health sciences · 2025Article
- Identification and Validation of Key Biomarkers in the Proximal Aqueous Humor Outflow Pathway.Current issues in molecular biology · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
- Identification of prognostic hub genes and functional role of BAIAP2L2 in prostate cancer progression: a transcriptomic and experimental study.Frontiers in immunology · 2025Article
- Integration of variant annotations using deep set networks boosts rare variant association testing.Nature genetics · 2024Article
- ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation.Cellular and molecular life sciences : CMLS · 2024Article
- Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.BMC genomics · 2024Article
- 40 Hz light flickering promotes sleep through cortical adenosine signaling.Cell research · 2024Article
- 10 Years of GWAS in intraocular pressure.Frontiers in genetics · 2023Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, the leading cause of irreversible blindness worldwide. IOP is also the only modifiable risk factor for glaucoma. Previous genome-wide association studies have established the contribution of common genetic variants to IOP. The role of rare variants for IOP was unknown. Using whole exome sequencing data from 110,260 participants in the UK Biobank (UKB), we conducted the largest exome-wide association study of IOP to date. In addition to confirming known IOP genes, we identified 40 novel rare-variant genes for IOP, such as BOD1L1, ACAD10 and HLA-B, demonstrating the power of including and aggregating rare variants in gene discovery. About half of these IOP genes are also associated with glaucoma phenotypes in UKB and the FinnGen cohort. Six of these genes, i.e. ADRB1, PTPRB, RPL26, RPL10A, EGLN2, and MTOR, are drug targets that are either established for clinical treatment or in clinical trials. Furthermore, we constructed a rare-variant polygenic risk score and showed its significant association with glaucoma in independent participants (n = 312,825). We demonstrated the value of rare variants to enhance our understanding of the biological mechanisms regulating IOP and uncovered potential therapeutic targets for glaucoma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.