The GG genotype of the HSPA1B gene is associated with increased risk of glaucoma in northern Iran

Resumo

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, χ² = 2.32). However, large population based studies are required for further evaluation and confirmation of our finding.