Abstract

Background Glutathione S transferase (GST) polymorphisms have been considered risk factors for the development of glaucoma, including primary open angle glaucoma (POAG) and other types of glaucoma. However, the results remain controversial. In this study, we have conducted a meta-analysis to assess the association between polymorphisms of GSTM1, GSTT1 and GSTP1 and glaucoma risk.MethodsPublished literature from PubMed and other databases were retrieved. All studies evaluating the association between GSTM1, GSTT1 and GSTP1 polymorphisms and glaucoma risk were included. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model.ResultsTwelve studies on GSTM1 (1109 cases and 844 controls), ten studies on GSTT1 (709 cases and 664 controls) and four studies on GSTP1 (543 cases and 511 controls) were included. By pooling all the studies, either GSTM1 or GSTT1 null polymorphism was not associated with a POAG risk, and this negative association maintained in Caucasian. The GSTP1 Ile 105 Val polymorphism was significantly correlated with increased POAG risk among Caucasian in a recessive model (Val/Val vs. Ile/Ile+Ile/Val: OR, 1.62, 95%CI: 1.00–2.61). Interestingly, increased glaucoma risk was associated with the combined GSTM1 and GSTT1 null genotypes (OR, 2.20; 95% CI, 1.47–3.31), and with the combined GSTM1 null and GSTP1 Val genotypes (OR, 1.86; 95% CI, 1.15–3.01).ConclusionsThis meta-analysis suggests that combinations of GST polymorphisms are associated with glaucoma risk. Given the limited sample size, the associations between single GST polymorphism and glaucoma risk await further investigation.

Highlights

  • Glaucoma is a heterogeneous group of diseases characterized by the death of the retinal ganglion cells and progressive degeneration of the optic nerve

  • In addition to the study by Juronen et al [20], in which the GSTM1 and GSTT1 phenotypes were determined with monoclonal antibody based enzyme-linked immunosorbent assay (ELISA), the genotyping for GSTM1, GSTT1 or GSTP1 was performed using polymerase chain reaction (PCR) in all other studies

  • The detailed characteristics of each study included in the meta-analysis are presented in Table 1, and the Glutathione S transferase (GST) polymorphism genotype distributions from each study are presented in Table S1 and S2

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Summary

Introduction

Glaucoma is a heterogeneous group of diseases characterized by the death of the retinal ganglion cells and progressive degeneration of the optic nerve. It is the second most frequent cause of irreversible blindness in the world and affects primarily the older population, estimated to affect about 80 million people worldwide by 2020 [1]. Genetic approaches have defined the causative genes (e.g., MYOC, OPTN and WDR36) for juvenile-onset and lateonset primary open angle glaucoma (POAG) [4]. In addition to these genes, over 20 gene variants were found to be associated with glaucoma [5]. We have conducted a meta-analysis to assess the association between polymorphisms of GSTM1, GSTT1 and GSTP1 and glaucoma risk

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