Background: Glaucoma is characterized by optic neuropathy of the retinal ganglion cell. It may be possible that β-amyloid (Aβ) and apolipoprotein E (APOE), the main proteins of the pathogenesis of AD, play a role in glaucoma development. The aim of this study was to evaluate a relationship between the APP and APOE gene polymorphisms and the risk of primary open-angle glaucoma (POAG) occurrence.
Materials and methods: The study consisted of 183 patients with POAG and 209 healthy subjects. Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP.
Results: We found a statistically significant increase of the -491 T allele frequency (p=0.02; OR=1.48; 95% CI=1.06-2.08) of APOE in POAG compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the APP polymorphism between patients and controls group. We also found an association between APOE polymorphic variant and retinal nerve fiber layer (RNFL). There was a statistically significant difference in the APOE gene A/T genotype frequency in the early POAG stage and middle-advanced POAG stage in comparison to the advanced POAG stage (p=0.04; OR=3.38; 95% CI=1.04-10.97).
Conclusions: The -491 T allele of APOE polymorphism may be associated with a risk of POAG occurrence in the Polish population.
Keywords: Apolipoprotein E; gene polymorphism; glaucoma; neurodegeneration; β-amyloid.