Derakhshan Akbar, Tavakkol Afshari Jalil, Sadeghi Allah Abadi Javad, Nikpoor Amin Reza, Daneshvar Ramin, Shokoohi Rad Saeed, Ansari-Astaneh Mohammad-Reza
Eye research center, Khatam-Al-Anbia eye hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Immunogenetic and cell culture department, immunology research center, school of medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Rep Biochem Mol Biol. 2019 Jan;7(2):167-173.
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.
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.
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).
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.
青光眼是不可逆性失明的常见病因。转化生长因子β1（TGF-β1）是眼部TGF-β超家族的主要亚型。研究表明，TGF-β1过表达与青光眼有关。有研究显示，TGF-β1 -509C>T多态性（rs1800469）的突变T等位基因的存在与基因表达增加有关。因此，在本研究中，我们调查了伊朗东北部患者中TGF-β1-509C>T基因多态性与原发性开角型青光眼（POAG）的相关性。
对112例POAG患者和112名对照参与者进行了病例对照研究。使用Bsu36I限制性内切酶，通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对TGF-β1-509C>T进行基因分型。此外，测量了杯盘比（CDR）、眼压（IOP）和视力（VA）。对所得结果进行统计学分析。
对照组中基因型频率最高的是CC基因型（44.6%），但杂合子CT基因型（45.6%）是患者组中观察到的基因型频率最高的（P值：0.022，TT基因型的OR：2.54，OR的95%CI：1.22，5.27）。此外，T突变等位基因的频率在病例组和对照组之间存在显著差异（P值：0.005，OR：1.73，OR的95%CI：1.18，2.53）。
总之，TGF-β1 -509C>T基因多态性与POAG疾病之间存在显著关联，突变T等位基因的遗传被认为是伊朗东北部地区青光眼患者的一个危险因素。
