Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype.

Oxidative stress and neuroinflammation are involved in the pathogenesis and progression of glaucoma. Our aim was to evaluate the impact of selected single-nucleotide polymorphisms in inflammation and oxidative stress genes on the risk of glaucoma, the patients' clinical characteristics and the glaucoma phenotype. In total, 307 patients with primary open-angle glaucoma or ocular hypertension were enrolled. The control group included 339 healthy Slovenian blood donors. DNA was isolated from peripheral blood. Genotyping was performed for rs4880, rs1001179, rs1050450, rs1695, gene deletion, 1 gene deletion, rs1143623, rs16944, rs1800795 and rs1800629. We found a nominally significant association of gene deletion with decreased risk of ocular hypertension and a protective role of rs16944 and rs1800629 in the risk of glaucoma. The CT and TT genotypes of rs1050450 were significantly associated with advanced disease, lower intraocular pressure and a larger vertical cup-disc ratio. In conclusion, genetic variability in and may be associated with glaucoma risk, while and may be associated with the glaucoma phenotype. In the future, improved knowledge of these pathways has the potential for new strategies and personalised treatment of glaucoma.