Background: Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates genetic susceptibility plays a role in primary open-angle glaucoma (POAG). The authors systematically investigated the association between optineurin (OPTN) gene polymorphisms and POAG.
Material/Methods: A meta-analysis of 25 published genetic association case-control studies, which examined the relation between POAG and the M98K, T34T, and R545Q polymorphisms of the OPTN gene, was carried out.
Results: For the T34T polymorphism, overall, the heterogeneity between studies was significant (P=0.0009), and the allele A was not associated with the risk of POAG relative to allele G (odds ratio: 1.14 [95% CI, 0.93 to 1.40]). In Asians and adults, the dominant model for allele A produced significant results (odds ratios: 1.50 [1.23 to 1.82] and 1.45 [1.10 to 1.91], respectively). Asian subjects also showed significance under the allele contrast model; however, the recessive model produced no significant results. Regarding the M98K and R545Q polymorphisms, the overall analysis did not detect a statistically significant association (odds ratios for the allele contrast models: 1.16 [0.96 to 1.40] and 1.14 [0.93 to 1.40], respectively).
Conclusions: There is evidence of a modest positive association only between T34T polymorphism and POAG in Asians and adults. The M98K and R545Q polymorphisms have no association with POAG susceptibility. However, this meta-analysis exploring combinations of the polymorphisms may help us better understand the genetics of POAG.

Keywords: Models, Genetic, Glaucoma, Open-Angle - genetics, Genetic Association Studies, Bias (Epidemiology), Amino Acid Substitution - genetics, Aged, 80 and over, Odds Ratio, Polymorphism, Single Nucleotide - genetics, Transcription Factor TFIIIA - genetics