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Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma

30 Nov 2022

Abstract excerpt

Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, the leading cause of irreversible blindness worldwide. IOP is also the only modifiable risk factor for glaucoma. Previous genome-wide association studies have established the contribution of common genetic variants to IOP. The role of rare variants for IOP was unknown. Using whole exome sequencing data from 110,260 participants in the UK...

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PMID: 36450729
DOI: 10.1038/s41467-022-35188-3

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