Introduction: In Normal Tension Glaucoma (NTG), factors other than elevated Intraocular Pressure (IOP) are likely to play a role in the pathogenesis of optic neuropathy. The potential similarities between Alzheimer’s disease and NTG in cellular apoptosis leading to neuro-degeneration have been shown in recent studies. HSPA5 (Heat Shock Protein family A member 5) promoter polymorphisms have been reported to be associated with a risk of Alzheimer’s Disease (AD). The purpose of our study was to investigate the role of HSPA5 promoter polymorphisms in NTG patients.
Methods: A total of 222 patients with NTG, along with 236 normal controls were enrolled in this study. Genomic DNA was amplified through a Polymerase Chain Reaction (PCR) and identified for the polymorphic HSPA5 (-415 and -370) by Xmn1 and BstY1 restriction digestion, respectively. PCR fragments with potential polymorphic HSPA5 (-180) were subjected to sequence-analyses by a Hex-labeled primer. Genotypes for both the NTG patients and control groups were compared for statistically significant differences.
Results: Polymorphisms (-415) G/A and (-180) del/G were completely linked in our population. The genotype and allele frequency distribution at the -415 G/A and -180 del/G sites showed a significant difference between the NTG cases and controls. The genotype frequency of HSPA5 (-415) AA / (-180) GG and the allele frequency of HSPA5 (-415) A / (-180) G were significantly lower (p=0.04 and p= 0.01, respectively) in the NTG patients when compared with those in the control group. There was no significant difference in genotype or allele frequency distribution of the HSPA5 (-370) C/T between the NTG and control groups. There was a reduced risk of NTG associated with the carriers for the HSPA5 (-415) A / (-180 ) G allele compared with that in the control population (p=0.01).
Conclusion: HSPA5 (-415) A and (-180) G allele polymorphisms may be protective factors in the development of NTG.
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