ArticleNature communications2024
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- Integration of GWAS and single-cell analysis for psoriasis identifies disease-associated cell subtypes and therapeutic targets.Nature communications · 2026Pooled it
- Linking Iris Cis-Regulatory Variants to Primary Angle-Closure Glaucoma Via Clinical Imaging and Multiomics.Investigative ophthalmology & visual science · 2024Pooled it
- Cross-scale genetic analysis prioritizes shared regulatory variation, cell-type contributions, co-expression programs, and exon-level patterns in atopic dermatitis and asthma.Functional & integrative genomics · 2026Article
- Decoding Primary Open-Angle Glaucoma: A Multi-Omics Approach to Identify Druggable Effector Genes.Investigative ophthalmology & visual science · 2026Article
- Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- EpiSNPdb: A Comprehensive Database of Genetic Epistasis Across Multiple Cancer Types.Current issues in molecular biology · 2026Article
- Article
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- Neuroinflammation in glaucoma: a myriad of cellular pathways and players.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.Nature communications · 2026Article
- Integrative Multi-Omics Analysis Prioritizes Candidate Therapeutic Targets for Primary Open-Angle Glaucoma.International journal of molecular sciences · 2026Article
- Chromatin dynamics identifies 78 genes at loci associated with elevated intraocular pressure and primary open-angle glaucoma.bioRxiv : the preprint server for biology · 2026Article
- Plasma Proteomic Dynamics Preceding Glaucoma Reveal a 15-Year Pre-Diagnostic Window: Causal Insights and Predictive Utility in 45,850 Participants.Investigative ophthalmology & visual science · 2026Article
- Aldehyde reductase as potential measurement for retinitis pigmentosa: A two-sample Mendelian randomization (MR) study.Medicine · 2026Article
- Time-Dependent Glucocorticoid-Induced Transcriptomic Changes in Human Trabecular Meshwork and Schlemm's Canal Cells.Investigative ophthalmology & visual science · 2026Article
- cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.Nature methods · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.medRxiv : the preprint server for health sciences · 2026Article
- Unraveling novel therapeutic targets for diffuse large B-cell lymphoma: a plasma multi-omics study.Frontiers in pharmacology · 2026Article
- Applications of single-cell transcriptomics in glaucoma research: from the aqueous humor outflow pathway to retinal ganglion cell neurodegeneration.Frontiers in physiology · 2026Review
Corrections and comments
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Authors and funding
26 authors at 20 institutions in 12 countries.
Funding
Abstract
Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a leading cause of irreversible blindness worldwide. However, its molecular and cellular causes are not well understood. Elevated intraocular pressure (IOP) is a major risk factor, but many patients have normal IOP. Colocalization and Mendelian randomization analysis of >240 POAG and IOP genome-wide association study (GWAS) loci and overlapping expression and splicing quantitative trait loci (e/sQTLs) in 49 GTEx tissues and retina prioritizes causal genes for 60% of loci. These genes are enriched in pathways implicated in extracellular matrix organization, cell adhesion, and vascular development. Analysis of single-nucleus RNA-seq of glaucoma-relevant eye tissues reveals that the POAG and IOP colocalizing genes and genome-wide associations are enriched in specific cell types in the aqueous outflow pathways, retina, optic nerve head, peripapillary sclera, and choroid. This study nominates IOP-dependent and independent regulatory mechanisms, genes, and cell types that may contribute to POAG pathogenesis.
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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.