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Chromatin topology dynamics of dexamethasone-treated trabecular meshwork identifies 78 causal genes for intraocular pressure and primary open angle glaucoma [CUT&Run]

GSE301512 Homo sapiens Genome binding/occupancy profiling by high throughput sequencing 30 samples Submitted 2026/04/10 Platform GPL30173
Summary
The physiology of trabecular meshwork (TM) controls aqueous humor outflow resistance and thereby intraocular pressure (IOP), a major risk factor for primary open-angle glaucoma (POAG). To decipher how GWAS-identified non-coding variants contribute to IOP and POAG, we generated a high-resolution map of genome topology and regulatory modules from primary human TM cell lines. Integrated analyses with dexamethasone-treated TM cells, a model of augmented IOP, demonstrate extensive changes in chromatin compartments, accessibility, looping, and histone marks that are highly concordant with transcriptional changes. By combining GWAS-associated variants with dexamethasone-induced chromatin looping, we discovered 26 IOP- and 52 POAG- candidate causal genes, belonging to key TM pathways, including integrin, transcriptional regulation of VENTX, and TNF signaling. Our studies provide a mechanistic framework for elucidating genetic complexity of IOP and pathogenesis of POAG and suggest new targets for therapies.
Published in
Chromatin dynamics identifies 78 genes at loci associated with elevated intraocular pressure and primary open-angle glaucoma
Singh N, Batz Z, Advani J et al. · bioRxiv : the preprint server for biology 2026 · PMID 41890121 · doi:10.64898/2026.03.12.711121
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Direct links to NCBI, no account and no request form: the whole study as GSE301512_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 30 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1285378 and SRA study SRP597777. Searching any of these in the dataset finder brings you back here.

Study design
24 conditions, each sampled once — no replicated groups
Resource CUT&Run TM62 H3K4me ×3 Resource CUT&Run TM71 H3K4me ×3 Resource CUT&Run TM83 H3K4me ×3

Read from 30 sample titles: 24 distinct titles with little repetition. Check it against the sample list below before relying on it.

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