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Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

9 Jan 2024

Abstract excerpt

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...

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PMID: 38195602
DOI: 10.1038/s41467-023-44380-y

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