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Rep Biochem Mol Biol. 2020 Apr;9(1):8-13. doi: 10.29252/rbmb.9.1.8.
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BMC Genet. 2019 Jul 2;20(1):52. doi: 10.1186/s12863-019-0758-4.
3
Significant Association and Increased Risk of Primary Open Angle Glaucoma with Rs991967 Gene Polymorphism in North Eastern Iranian Patients.伊朗东北部患者中Rs991967基因多态性与原发性开角型青光眼的显著关联及风险增加
Rep Biochem Mol Biol. 2019 Jan;7(2):210-216.
4
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Rep Biochem Mol Biol. 2019 Jan;7(2):167-173.
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Association between TGFβ1 polymorphisms and chronic hepatitis B infection in an Iranian population.伊朗人群中TGFβ1基因多态性与慢性乙型肝炎感染的关联
Rev Soc Bras Med Trop. 2017 May-Jun;50(3):301-308. doi: 10.1590/0037-8682-0266-2016.
6
Transforming growth factor-β1 (C509T, G800A, and T869C) gene polymorphisms and risk of ischemic stroke in North Indian population: A hospital-based case-control study.转化生长因子-β1(C509T、G800A和T869C)基因多态性与北印度人群缺血性中风风险:一项基于医院的病例对照研究。
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伊朗青光眼患者谷胱甘肽S-转移酶Omega-2和转化生长因子-1基因多态性

Glutathione S-Transferase Omega-2 and Transforming Growth Factor-1 Polymorphisms in Iranian Glaucoma Patients.

作者信息

Bamdad Shahram, Sanie-Jahromi Fatemeh, Alamolhoda Marzieh, Masihpour Nasrin, Karimi Mohammad-Hossein

机构信息

Poostchi Ophthalmology Research Center, Department of Ophthalmology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Transplant Research Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

J Ophthalmol. 2021 Nov 23;2021:1061650. doi: 10.1155/2021/1061650. eCollection 2021.

DOI:10.1155/2021/1061650
PMID:34858663
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8632431/
Abstract

BACKGROUND

To investigate the association of glutathione s-transferase omega 2 (GSTO2) (142N > D) and transforming growth factor-1 (TGF-1) (869T > C) gene polymorphisms on the pathogenesis of two common types of glaucoma (including primary open-angle glaucoma (POAG) and chronic angle-closure glaucoma (CACG)) in the Iranian population.

METHODS

A total of 100 glaucoma patients (60% males and 40% females with an age mean ± SD of 34.66 ± 14.25 years; 56 cases of POAG and 44 cases of CACG) were enrolled in this study. GSTO2 (142N > D) and TGF-1 (869T > C) polymorphisms were evaluated by PCR-based methods in patients and controls.

RESULTS

At locus GSTO2 (142N > D), the odds of ND genotype with respect to DD and NN genotypes were 1.55 and 2.08 times higher in POAG and CACG patients compared to those of patients in the control group (95% CI: 0.80-2.98; 95% CI: 1.00-4.33) which was statistically significant in CACG patients. However, the odds of DD and NN genotypes against the reference genotype in two patients group were not statistically significant as compared to those of patients in the control group. There was a significant association between the ND genotype and male patients (OR = 2.28, 95% CI: 1.06-4.92). The analysis of TGF-1 (869T > C) polymorphisms showed no significant difference between the genotypes of TGF-1 (869T > C) polymorphisms in patients and control groups; however, the CT genotype of TGF-1 significantly differed between female controls and patients (OR = 0.42, 95% CI: 0.18-0.96).

CONCLUSION

The presented results revealed that there was a significant association between the ND genotype of GSTO2 and the pathogenesis of glaucoma. Furthermore, this genotype can be considered as a sex-dependent genetic risk factor for the development of glaucoma. In contrast, the CT genotype of TGF-1 is suggested to be a protective genetic factor against the pathogenesis of glaucoma.

摘要

背景

研究伊朗人群中谷胱甘肽S-转移酶ω2(GSTO2)(142N>D)和转化生长因子-1(TGF-1)(869T>C)基因多态性与两种常见类型青光眼(包括原发性开角型青光眼(POAG)和慢性闭角型青光眼(CACG))发病机制之间的关联。

方法

本研究共纳入100例青光眼患者(男性占60%,女性占40%,平均年龄±标准差为34.66±14.25岁;56例POAG患者和44例CACG患者)。采用基于聚合酶链反应的方法对患者和对照组进行GSTO2(142N>D)和TGF-1(869T>C)基因多态性评估。

结果

在GSTO2(142N>D)位点,与对照组患者相比,POAG和CACG患者中ND基因型相对于DD和NN基因型的优势比分别高1.55倍和2.08倍(95%置信区间:0.80 - 2.98;95%置信区间:1.00 - 4.33),在CACG患者中具有统计学意义。然而,与对照组患者相比,两组患者中DD和NN基因型相对于参考基因型的优势比无统计学意义。ND基因型与男性患者之间存在显著关联(优势比 = 2.28,95%置信区间:1.06 - 4.92)。TGF-1(869T>C)基因多态性分析显示,患者组和对照组中TGF-1(869T>C)基因多态性基因型之间无显著差异;然而,TGF-1的CT基因型在女性对照组和患者之间存在显著差异(优势比 = 0.42,95%置信区间:0.18 - 0.96)。

结论

研究结果表明,GSTO2的ND基因型与青光眼发病机制之间存在显著关联。此外,该基因型可被视为青光眼发生的性别依赖性遗传风险因素。相比之下,TGF-1的CT基因型被认为是对抗青光眼发病机制的保护性遗传因素。