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Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

Original publication

DOI

10.1038/ng.3087

Type

Journal article

Journal

Nat Genet

Publication Date

10/2014

Volume

46

Pages

1126 - 1130

Keywords

ABO Blood-Group System, ATP Binding Cassette Transporter 1, Adult, Aged, Aged, 80 and over, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 9, Cohort Studies, Female, Fibronectins, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glaucoma, Glaucoma, Open-Angle, Humans, Intraocular Pressure, Male, Meta-Analysis as Topic, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Young Adult