Akbar Derakhshan1, Jalil Tavakkol Afshari2,3, Javad Sadeghi Allah Abadi1, Amin Reza Nikpoor2,4, Ramin Daneshvar1, Saeed Shokoohi Rad1, Mohammad-Reza Ansari-Astaneh1. 1. Eye research center, Khatam-Al-Anbia eye hospital, Mashhad University of Medical Sciences, Mashhad, Iran. 2. Immunogenetic and cell culture department, immunology research center, school of medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 3. Department of allergy and immunology, school of medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 4. Department of Immunology, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
Abstract
BACKGROUND: Glaucoma is a common cause of irreversible blindness. Transforming growth factor beta-1(TGF-β1) is the main isoform of TGF-β superfamily in the eye. Overexpression of TGF-β1 is shown to be related with the glaucoma. Studies have shown that the presence of mutant T allele of TGF-β1 -509C>T polymorphism (rs1800469) is associated with increased gene expression. So, in present study, association of the TGF-β1-509C>T gene polymorphism and primary open angle glaucoma (POAG) in patients from north east of Iran was investigated. METHODS: A case-control study was conducted on 112 POAG patients and 112 control participants. TGF-β1- 509C>T genotyping was done by PCR-restriction fragment length polymorphism (PCR-RFLP) method using Bsu36I restriction enzyme. Moreover, cup to disk ratio(CDR), intraocular pressure (IOP) and visual acuity (VA) were measured. The obtained results were statistically analyzed. RESULTS: The highest frequency of genotype in the control group was related to CC genotype (44.6%), but the heterozygous CT genotype (45.6%) was observed as the highest frequency of genotypes in patient group (P value: 0.022, OR for TT genotype: 2.54 CI95% for OR: 1.22, 5.27). Also, the frequency of the T mutant allele showed a significant difference between case and control groups (P value: 0.005, OR: 1.73 CI95% for OR: 1.18, 2.53). CONCLUSION: In conclusion, a significant association was seen between TGF-β1 -509C>T gene polymorphism and POAG disease and inheritance of mutant T allele is considered to be a risk factor for glaucoma in patients living in North Eastern part of Iran.
BACKGROUND: Glaucoma is a common cause of irreversible blindness. Transforming growth factor beta-1(TGF-β1) is the main isoform of TGF-β superfamily in the eye. Overexpression of TGF-β1 is shown to be related with the glaucoma. Studies have shown that the presence of mutant T allele of TGF-β1 -509C>T polymorphism (rs1800469) is associated with increased gene expression. So, in present study, association of the TGF-β1-509C>T gene polymorphism and primary open angle glaucoma (POAG) in patients from north east of Iran was investigated. METHODS: A case-control study was conducted on 112 POAG patients and 112 control participants. TGF-β1- 509C>T genotyping was done by PCR-restriction fragment length polymorphism (PCR-RFLP) method using Bsu36I restriction enzyme. Moreover, cup to disk ratio(CDR), intraocular pressure (IOP) and visual acuity (VA) were measured. The obtained results were statistically analyzed. RESULTS: The highest frequency of genotype in the control group was related to CC genotype (44.6%), but the heterozygous CT genotype (45.6%) was observed as the highest frequency of genotypes in patient group (P value: 0.022, OR for TT genotype: 2.54 CI95% for OR: 1.22, 5.27). Also, the frequency of the T mutant allele showed a significant difference between case and control groups (P value: 0.005, OR: 1.73 CI95% for OR: 1.18, 2.53). CONCLUSION: In conclusion, a significant association was seen between TGF-β1 -509C>T gene polymorphism and POAG disease and inheritance of mutant T allele is considered to be a risk factor for glaucoma in patients living in North Eastern part of Iran.
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