Glaucoma is a heterogeneous eye disease characterized by optic nerve atrophy and visual field defects. The disease damages the retinal ganglion cells (RGC) and their functional axons. Heat shock proteins 70 (HSP70) are molecular chaperons that could have a protective effect in the development of glaucoma. Polymorphisms of HSP70 may alter protein function or expression and are associated with the susceptibility to glaucoma. The purpose of this study was to investigate whether the HSPA1B 1267A/G (rs1061581) and HSPA1L 2437T/C (rs2227956) variants contribute to glaucoma susceptibility. Genomic DNA samples from 169 patients with glaucoma and 178 healthy controls were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Here we show that the presence of HSPA1B 1267GG genotype significantly increases the risk of glaucoma (OR = 3.16, 95% CI = 1.45-6.89, p = 0.003). The prevalence of HSPA1L 2437T/C genotypes in patients and controls did not differ significantly (p = 0.31, χ^(2) = 2.32). However, large population based studies are required for further evaluation and confirmation of our finding.
Background: Glaucoma is the leading cause of irreversible blindness worldwide. It is characterized by degeneration of the retinal ganglion cells and optic nerve damage. Vascular dysregulation plays an important role in the etiology of glaucoma. Nitric oxide (NO) increases blood flow in the vessels of the tissue and helps to overcome the stress. Circulating NO is synthesized in the vascular endothelium by action of endothelial nitric oxide synthase (eNOS). Glu298Asp is one of the common polymorphism of eNOS gene. This study evaluates the association of eNOS Glu298Asp polymorphism with glaucoma. Materials and Methods: This case-control study included 110 glaucoma patients and 121 controls. Genomic DNA was extracted from peripheral blood leukocytes. Genotypes were detected using a PCR-RFLP method. Statistical analysis was performed using the MedCalc program (version 12.1). Results: The frequency of GG, GT and TT genotypes in controls were 0.52, 0.42 and 0.06, respectively while in glaucoma patients were 0.6, 0.32 and 0.08, respectively. No significant differences in genotypes frequencies were found between patients and controls (p=0.24, χ²=2.78). In control and patient groups, the frequency of G allele was 0.73 and 0.76, respectively and the frequency of T allele were 0.27 and 0.24, respectively. The allele frequencies did not differ significantly between controls and patients (p=0.56, χ²=0.33). Conclusion: It is suggested that eNOS Glu298Asp polymorphism may not be associated with the risk factor of glaucoma in the studied population. However, larger and different ethnicities-based populations are required to achieve a definitive conclusion.
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