The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables

J Glaucoma. 2013 Sep;22(7):517-25. doi: 10.1097/IJG.0b013e31824d4fd8.

Abstract

Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward the development of novel gene-based methods of diagnosis and treatment. Genome-wide association studies (GWAS) have successfully identified genes contributing to complex traits such as POAG however, such studies frequently require very large sample sizes, and thus, collaborations and consortia have been of critical importance for the GWAS approach. In this report we describe the formation of the NEIGHBOR consortium, the harmonized case control definitions used for a POAG GWAS, the clinical features of the cases and controls, and the rationale for the GWAS study design.

Publication types

  • Multicenter Study
  • Randomized Controlled Trial
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antihypertensive Agents / therapeutic use
  • Case-Control Studies
  • Cooperative Behavior
  • Female
  • Gene Expression Profiling
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genotype
  • Glaucoma, Open-Angle / diagnosis
  • Glaucoma, Open-Angle / genetics*
  • Glaucoma, Open-Angle / therapy
  • Humans
  • Intraocular Pressure
  • Male
  • Middle Aged
  • Research Design*
  • Trabeculectomy

Substances

  • Antihypertensive Agents

Grant support