Salehi Z, Gholaminia M, Gholaminia Z, Panjtanpanah M, Qazvini M G
Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran.
Department of Ophthalmology, Guilan University of Medical Sciences (GUMS), Rasht, Iran.
Mol Biol (Mosk). 2017 Jan-Feb;51(1):31-36. doi: 10.7868/S0026898416060185.
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.
青光眼是一种异质性眼病，其特征为视神经萎缩和视野缺损。该疾病会损害视网膜神经节细胞（RGC）及其功能性轴突。热休克蛋白70（HSP70）是分子伴侣，可能在青光眼的发展过程中具有保护作用。HSP70的多态性可能会改变蛋白质的功能或表达，并与青光眼的易感性相关。本研究的目的是调查HSPA1B 1267A/G（rs1061581）和HSPA1L 2437T/C（rs2227956）变异是否与青光眼易感性有关。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对169例青光眼患者和178例健康对照的基因组DNA样本进行基因分型。我们在此表明，HSPA1B 1267GG基因型的存在显著增加了青光眼的风险（OR = 3.16，95%CI = 1.45 - 6.89，p = 0.003）。患者和对照中HSPA1L 2437T/C基因型的患病率没有显著差异（p = 0.31，χ² = 2.32）。然而，需要基于大量人群的研究来进一步评估和证实我们的发现。
