谷胱甘肽S-转移酶（GSTM1、GSTT1）基因多态性与青少年性开角型青光眼易感性：青光眼的病例对照研究与荟萃分析
Glutathione S-transferase (GSTM1, GSTT1) polymorphisms and JOAG susceptibility: A case control study and meta-analysis in glaucoma.
作者信息
Malik Manzoor Ahmad, Gupta Viney, Shukla Swati, Kaur Jasbir
机构信息
Department of Ocular Biochemistry, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India; Cancer Diagnostic and Research Centre, Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Soura, Srinagar, J&K 190011, India.
Glaucoma Research Facility and Clinical Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
出版信息
Gene. 2017 Sep 10;628:246-252. doi: 10.1016/j.gene.2017.07.028. Epub 2017 Jul 12.
PURPOSE
Glutathione S transferase (GST) polymorphisms have been considered risk factors for the development of glaucoma. The aim of the present study was to investigate the association of glutathione S-transferase GSTT1 and GSTM1 genotypes with juvenile open-angle glaucoma (JOAG) in Indian patients.
METHODS
A case-control study was performed to investigate the associations of GSTM1 and GSTT1 in juvenile open-angle glaucoma. The genotype of GSTM1 and GSTT1 were determined in 73 juvenile open-angle glaucoma patients, and 70 controls matched by age and sex by polymerase chain reaction method. We also performed a meta-analysis of sixteen published studies on GSTM1 and GSTT1 and evaluated the association between the GSTM1 and GSTT1 polymorphisms and glaucoma (JOAG & POAG). Published literature from PubMed and other databases were retrieved. All studies evaluating the association between GSTM1 and GSTT1 polymorphisms and glaucoma (JOAG & POAG) risk were included. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model.
RESULTS
In the present study, we observed there is no association of GSTM1 (OR=0.680; 95% CI=0.323-1.433; p=0.311) or GSTT1 (OR=0.698; 95% CI=0.307-1.586; p=0.391) with JOAG. In the present meta-analysis, significantly increased glaucoma (JOAG & POAG) risk was found among subjects carrying GSTM1 null genotype (OR=1.177; 95% CI=1.028-1.348; p=0.018) but not among subjects carrying GSTT1 deletion genotype (OR=1.186; 95% CI=0.992-1.417; p=0.061).
CONCLUSIONS
The present case-control study found that GSTM1 and GSTT1 polymorphism are not associated with JOAG risk in North Indian population. The present meta-analysis suggested that there might be a significant association of GSTM1 null genotype with glaucoma (JOAG & POAG) risk. To the best of our knowledge, this is the first study in the world to investigate role of GSTM1 and GSTT1 polymorphisms with JOAG susceptibility. Given the limited sample size, the associations between GST polymorphism and glaucoma risk needs further investigation.
目的
谷胱甘肽S转移酶（GST）基因多态性被认为是青光眼发病的危险因素。本研究旨在探讨谷胱甘肽S转移酶GSTT1和GSTM1基因多态性与印度青少年开角型青光眼（JOAG）的相关性。
方法
进行一项病例对照研究，以调查GSTM1和GSTT1在青少年开角型青光眼中的相关性。采用聚合酶链反应法，对73例青少年开角型青光眼患者和70例年龄及性别相匹配的对照者进行GSTM1和GSTT1基因分型。我们还对16项已发表的关于GSTM1和GSTT1的研究进行了荟萃分析，并评估了GSTM1和GSTT1基因多态性与青光眼（JOAG和POAG）之间的相关性。检索了来自PubMed和其他数据库的已发表文献。纳入所有评估GSTM1和GSTT1基因多态性与青光眼（JOAG和POAG）风险之间相关性的研究。使用随机或固定效应模型计算合并比值比（OR）和95%置信区间（CI）。
结果
在本研究中，我们观察到GSTM1（OR = 0.680；95% CI = 0.323 - 1.433；p = 0.311）或GSTT1（OR = 0.698；95% CI = 0.307 - 1.586；p = 0.391）与JOAG无相关性。在本荟萃分析中，发现携带GSTM1无效基因型的受试者青光眼（JOAG和POAG）风险显著增加（OR = 1.177；95% CI = 1.028 - 1.348；p = 0.018），但携带GSTT1缺失基因型的受试者中未发现（OR = 1.186；95% CI = 0.992 - 1.417；p = 0.061）。
结论
本病例对照研究发现，在北印度人群中，GSTM1和GSTT1基因多态性与JOAG风险无关。本荟萃分析表明，GSTM1无效基因型可能与青光眼（JOAG和POAG）风险存在显著相关性。据我们所知，这是世界上第一项研究GSTM1和GSTT1基因多态性与JOAG易感性关系的研究。鉴于样本量有限，GST基因多态性与青光眼风险之间的相关性需要进一步研究。
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