No abstract

GG ‫پلي‬ ‫مورفيسم‬ HSP70-2 1267A/G ‫ترتيب‬ ‫(به‬ ‫داشت‬ ‫کنترل‬ ‫گروه‬ ‫به‬ ‫نسبت‬ ‫بيشتري‬ ‫فراواني‬ ‫بيمار‬ ‫گروه‬ ‫در‬ AbstractBackground: Cataract is a visible opacity of the eye lens and it is the main reason of reversible blindness in the world. Oxidative stress is known as a major factor in cataract formation HSP70-2 protein is a molecular chaperone which is essential for cell survival in stress conditions. HSP70-2 gene is located in the human leukocyte antigen class ΙΙΙ region. This gene encodes an inducible protein. One of the common polymorphism of HSP70-2 is 1267A/G which is located in coding region. The aim of this study was to analysis of 1267A/G polymorphism of hsp70-2 gene in cataract patients. Material and Methods:This case-control study included 118 cataract patients and 122 healthy people as a control groups. Genomic DNA was extracted from peripheral blood leukocytes and genotyping determination was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis was performed by using the MedCalc software (Version 12.1). Results:The frequency of G allele was significantly higher in patients than the controls, (0.36 and 0.24, respectively). A higher frequency of the GG genotype of the HSP70-2 1267A/G polymorphism was found in the patients compared with controls (21.19% and 8.20%, respectively). The patients carrying the GG genotype were 3.2-fold at a higher risk of cataract compared with AA genotype (P=0.005). Conclusion:The finding of this study suggested that the HSP70-2 1267A/G may affect the susceptibility to cataract in the studied population. Anyway the randomized multicenter studies with greater sample size still need to confirmed our results.

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.

No abstract

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.