Polymorphism Analysis of GSTM1 and OPA1 Genes in Greek Patients with Primary Open-angle Glaucoma

Glaucoma is a heterogenous group of optic neuropathies leading to progressive degeneration of the optic nerve and vision loss. Over the past decades, disease-causing genes have been identified and multigenic inheritance theory has-beens investigated for many cases of glaucoma. The purpose of this study was to investigate the distribution of mutations in glutathione S-transferase M1 (GSTM1) and optic atrophy 1 (OPA1) genes in a series of patients of Greek origin.

This was a case-control study of 106 patients with primary open-angle glaucoma (POAG) and 120 healthy controls of Greek origin, surveyed for polymorphisms with potential correlation to POAG. A DNA sample from each individual was genotyped for GSTM1 and OPA1 (rs166850, rs10451941) polymorphisms.

GSTM1 null genotype carriers seem to have an increased risk of developing POAG (odds ratio=1.86, 95% confidence interval=1.07-3.21; p=0.03). The results indicate that the OPA1 genotype (rs166850 and rs10451941 polymorphisms) is not significantly associated with POAG.

The GSTM1 null genotype might be associated with increased risk of development of POAG in the Greek population. No significant correlation was found between OPA1 polymorphisms and POAG.