Abstract
Aims: To conduct a case-control study to investigate the association between the polymorphism rs11656696 located in the growth arrest-specific 7 gene (GAS7)on human chromosome 17p13.1 and primary open angle glaucoma (POAG). Methods: The polymorphism rs11656696 was genotyped using the TaqMan((R)) assay in 187 subjects comprising 92 unrelated POAG cases and 95 controls of Saudi Arabian origin. Results: Association analysis between cases and controls revealed no significant genotype distribution under additive (p=0.225), dominant (p=0.635), or recessive (p=0.085) models. Moreover, the allele frequency distribution was also nonsignificant (p=0.70). The minor A allele frequency was 0.35 and 0.41 among POAG cases and controls, respectively. In addition, specific clinical indices used to assess severity of glaucoma such as intraocular pressure (IOP), cup/disk ratio, and number of antiglaucoma medications also did not show any significant genotype distribution in POAG cases. Moreover, a binary logistic regression analysis did not show any significant effect of age, sex, or genotype on disease outcome. Conclusion: Polymorphism rs11656696 is not associated with POAG nor any of its endophenotypic traits such as IOP and cup/disk ratio and is thus not a risk factor for POAG in this Saudi cohort.