Article
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.
Human molecular genetics - 18 Apr 2024
Greatbatch Connor J, Lu Qinyi, Hung Sandy, Barnett Alexander J, Wing Kristof, Liang Helena, Han Xikun, Zhou Tiger, Siggs Owen M, Mackey David A, Cook Anthony L, Senabouth Anne, Liu Guei-Sheung, Craig Jamie E, MacGregor Stuart, Powell Joseph E, Hewitt Alex W
Abstract excerpt
INTRODUCTION: Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterized by progressive retinal ganglion cell degeneration, the precise pathogenesis remains unknown. Genome-wide association studies (GWAS) have uncovered many genetic variants associated with elevated intraocular pressure (IOP), one of the key risk factors for POAG. We aimed to identify genetic and morphological...
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