Primary open angle glaucoma genetics: The common variants and their clinical associations (Review)

Mol Med Rep. 2020 Aug;22(2):1103-1110. doi: 10.3892/mmr.2020.11215. Epub 2020 Jun 9.


Glaucoma is a group of progressive optic neuropathies that have in common characteristic optic nerve head changes, loss of retinal ganglion cells and visual field defects. Among the large family of glaucomas, primary open‑angle glaucoma (POAG) is the most common type, a complex and heterogeneous disorder with environmental and genetic factors contributing to its pathogenesis. Approximately 5% of POAG is currently attributed to single‑gene or Mendelian forms of glaucoma. Genetic linkage analysis and genome‑wide association studies have identified various genomic loci, paving the path to understanding the pathogenesis of this enigmatic, blinding disease. In this review we summarize the most common variants reported thus far and their possible clinical correlations.

Keywords: glaucoma; primary open-angle glaucoma; genome-wide association studies; endophenotype; linkage; genetics.

Publication types

  • Review

MeSH terms

  • Databases, Bibliographic
  • Endophenotypes
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Glaucoma, Open-Angle / classification*
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Polymorphism, Single Nucleotide