ArticleCell genomics2022
Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma.
Article in Cell genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
24 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
- Functional maturation of enteric neurons derived from human induced pluripotent stem cells.Stem cell reports · 2026Article
- Neuroinflammation in glaucoma: a myriad of cellular pathways and players.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration.Genome medicine · 2026Article
- Single-cell analysis reveals cellular heterogeneity and limits of marker-based assessment in retinal ganglion cell-enriched organoid cultures.Molecular medicine (Cambridge, Mass.) · 2026Article
- From Regeneration Failure to Functional Restoration: Unlocking the Neuronal-Intrinsic Regenerative Capacity as a Therapeutic Frontier for Optic Neuropathy and Glaucoma.CNS neuroscience & therapeutics · 2026Review
- Human pluripotent stem cell-derived retinal ganglion cells: advances in differentiation and translational applications.Molecular medicine (Cambridge, Mass.) · 2025Review
- OPTN protects retinal ganglion cells and ameliorates neuroinflammation in optic neuropathies.Communications biology · 2025Article
- Leveraging Alzheimer's Disease Omics to Identify Pleiotropic Genes Contributing to Neurodegeneration in Primary Open-Angle Glaucoma.Molecular neurobiology · 2025Article
- Dysfunctional one-carbon metabolism identifies vitamins BCell reports. Medicine · 2025Article
- Human Retinal Organoid Model of Ocular Toxoplasmosis.Pathogens (Basel, Switzerland) · 2025Article
- Emerging strategies targeting genes and cells in glaucoma.Vision research · 2025Review
- Generation of Retinal Ganglion Cells from Reprogrammed Keratocytes of Non-Glaucoma and Glaucoma Donors.Current protocols · 2025Article
- Review
- Cellular senescence mediates retinal ganglion cell survival regulation post-optic nerve crush injury.Cell proliferation · 2024Article
- How is Excitotoxicity Being Modelled in iPSC-Derived Neurons?Neurotoxicity research · 2024Review
- Guidelines for managing and using the digital phenotypes of pluripotent stem cell lines.Stem cell reports · 2024Review
- Macular structural integrity estimates are associated with Parkinson's disease genetic risk.Acta neuropathologica communications · 2024Article
- Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases.Nature genetics · 2024Article
- Induced pluripotent stem cell derived pericytes respond to mediators of proliferation and contractility.Stem cell research & therapy · 2024Article
Corrections and comments
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Authors and funding
27 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To assess the transcriptomic profile of disease-specific cell populations, fibroblasts from patients with primary open-angle glaucoma (POAG) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into retinal organoids and compared with those from healthy individuals. We performed single-cell RNA sequencing of a total of 247,520 cells and identified cluster-specific molecular signatures. Comparing the gene expression profile between cases and controls, we identified novel genetic associations for this blinding disease. Expression quantitative trait mapping identified a total of 4,443 significant loci across all cell types, 312 of which are specific to the retinal ganglion cell subpopulations, which ultimately degenerate in POAG. Transcriptome-wide association analysis identified genes at loci previously associated with POAG, and analysis, conditional on disease status, implicated 97 statistically significant retinal ganglion cell-specific expression quantitative trait loci. This work highlights the power of large-scale iPSC studies to uncover context-specific profiles for a genetically complex disease.
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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.