ArticleHuman molecular genetics2022
Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration.
Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 59 citations in OpenAlex.
- Transcriptomic Characterization of Terminal Complement Complex-bound Cells in Human Choroid Using Single-Cell RNA Sequencing.bioRxiv : the preprint server for biology · 2026Article
- Mononuclear phagocyte-specific cGAS/STING targeting suppresses experimental choroidal neovascularization.JCI insight · 2026Article
- Development of a Targeted Choroidal Injury Model for the Study of Retinal Degenerations and Therapeutic Cell Replacement.Translational vision science & technology · 2026Article
- An Integrated Multi-omics Single Cell Atlas of the Human RPE and Choroid.bioRxiv : the preprint server for biology · 2026Article
- Single-cell and spatial analyses reveal endothelial-macrophage inflammatory crosstalk in dry age-related macular degeneration.Journal of translational medicine · 2026Article
- MMP9 Genotype and Systemic T-Cell Subsets Correlate With Structural and Functional Outcomes in Neovascular Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2026Article
- Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.Nature communications · 2026Article
- Tissue-resident macrophages maintain choroidal homeostasis by complement dependent and independent mechanisms.Journal of neuroinflammation · 2026Article
- Single-Cell Gene Expression and eQTL Analyses in the Human Retina, RPE, and Choroid in Macular Degeneration.bioRxiv : the preprint server for biology · 2026Article
- Trends, hotspots, and future directions of inflammation in age-related macular degeneration: A 20-year bibliometric study.Medicine · 2026Article
- Retinol tracing within murine neural retina reveals cell type-specific retinol transport and distribution.The Journal of clinical investigation · 2026Article
- Article
- Prenatally derived macrophages support choroidal health and decline in age-related macular degeneration.The Journal of experimental medicine · 2025Article
- A Novel, Long-Acting, Small Molecule PKM2 Activator and Its Potential Broad Application Against Photoreceptor Degeneration.Translational vision science & technology · 2025Article
- Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.Experimental eye research · 2025Review
- The role of IGF2BP2 in macrophage-mediated NLRP3 inflammasome activation in the pathogenesis of dry AMD.Biology direct · 2025Article
- DNA Methyltransferase Expression (DNMT1, DNMT3a, and DNMT3b) as a Potential Biomarker in Age-Related Macular Degeneration.Journal of clinical medicine · 2025Article
- Elevation of Granulocyte Colony Stimulating Factor in Human AMD Donor RPE-Choroid.Investigative ophthalmology & visual science · 2024Article
- Comparative analysis of In vivo endothelial cell translatomes across central nervous system vascular beds.Experimental eye research · 2024Article
- Tissue-Specific Immune Transcriptional Signatures in the Bordering Tissues of the Mouse Retina and Brain.Investigative ophthalmology & visual science · 2024Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
The human choroid is a heterogeneous, highly vascular connective tissue that dysfunctions in age-related macular degeneration (AMD). In this study, we performed single-cell RNA sequencing on 21 human choroids, 11 of which were derived from donors with early atrophic or neovascular AMD. Using this large donor cohort, we identified new gene expression signatures and immunohistochemically characterized discrete populations of resident macrophages, monocytes/inflammatory macrophages and dendritic cells. These three immune populations demonstrated unique expression patterns for AMD genetic risk factors, with dendritic cells possessing the highest expression of the neovascular AMD-associated MMP9 gene. Additionally, we performed trajectory analysis to model transcriptomic changes across the choroidal vasculature, and we identified expression signatures for endothelial cells from choroidal arterioles and venules. Finally, we performed differential expression analysis between control, early atrophic AMD, and neovascular AMD samples, and we observed that early atrophic AMD samples had high expression of SPARCL1, a gene that has been shown to increase in response to endothelial damage. Likewise, neovascular endothelial cells harbored gene expression changes consistent with endothelial cell damage and demonstrated increased expression of the sialomucins CD34 and ENCM, which were also observed at the protein level within neovascular membranes. Overall, this study characterizes the molecular features of new populations of choroidal endothelial cells and mononuclear phagocytes in a large cohort of AMD and control human donors.
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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.