Katherine Duchinski
A5040417723- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Ophthalmology and Eye Disorders
Harvard University
2022-2024
Broad Institute
2022
Massachusetts Eye and Ear Infirmary
2022
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) major risk factor, but many patients have normal IOP. Colocalization Mendelian randomization analysis >240 POAG IOP genome-wide association study (GWAS) loci overlapping expression splicing quantitative trait (e/sQTLs) in 49 GTEx tissues retina...
Abstract Background In primary open-angle glaucoma (POAG), lowering intraocular pressure (IOP) is the only proven way of slowing vision loss. Schlemm’s canal (SC) a hybrid vascular and lymphatic vessel that mediates aqueous humour drainage from anterior ocular chamber. Animal studies support importance SC endothelial angiopoietin-TEK signalling, more recently TIE1 in maintaining normal IOP. However, human genetic for causal role TEK signalling IOP currently lacking. Methods GWAS summary...
Abstract Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a leading cause of irreversible blindness worldwide; however, the molecular and cellular causes are not well understood. Elevated intraocular pressure (IOP) major risk factor, but many patients have normal IOP. Colocalization Mendelian randomization analysis >240 POAG IOP GWAS loci overlapping eQTLs sQTLs in 49 GTEx tissues retina prioritized causal genes for 60% loci. These were enriched...