ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.

ABSTRACT: Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological changes leading to increased IOP, which can manifest as medication resistance as disease progresses. To identify physiological modulators of IOP, we performed genome- and exome-wide association analysis in >129,000 individuals with IOP measurements and extended these findings to an analysis of glaucoma risk. We report the identification and functional characterization of rare coding variants (including loss-of-function variants) in ANGPTL7 associated with reduction in IOP and glaucoma protection. We validated the human genetics findings in mice by establishing that Angptl7 knockout mice ha

SUBMITTER: Praveen K 

PROVIDER: S-EPMC9529959 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature