ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma

PLoS Genet. 2014 Mar 6;10(3):e1004089. doi: 10.1371/journal.pgen.1004089. eCollection 2014 Mar.

Abstract

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anterior Chamber / metabolism
  • Anterior Chamber / pathology*
  • Asian People
  • Genome-Wide Association Study*
  • Glaucoma, Angle-Closure / genetics*
  • Glaucoma, Angle-Closure / pathology
  • Humans
  • Multidrug Resistance-Associated Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • ABCC5 protein, human
  • Multidrug Resistance-Associated Proteins