Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

Hum Mol Genet. 2013 Nov 15;22(22):4653-60. doi: 10.1093/hmg/ddt293. Epub 2013 Jul 7.

Abstract

To discover quantitative trait loci for intraocular pressure, a major risk factor for glaucoma and the only modifiable one, we performed a genome-wide association study on a discovery cohort of 2175 individuals from Sydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P(combined) = 1.10 × 10(-8)). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Australia
  • Autoantigens / genetics*
  • Chromosomes, Human, Pair 7
  • Cohort Studies
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study*
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Intraocular Pressure / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Prospective Studies
  • Quantitative Trait Loci
  • Receptors, Glucocorticoid / genetics*
  • Risk Factors

Substances

  • Autoantigens
  • GLCCI1 protein, human
  • ICA1 protein, human
  • Receptors, Glucocorticoid