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Meta-Analysis
. 2012;7(9):e46632.
doi: 10.1371/journal.pone.0046632. Epub 2012 Sep 28.

Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis

Jin-Wei Cheng  1 , Shi-Wei Cheng, Xiao-Ye Ma, Ji-Ping Cai, You Li, Guo-Cai Lu, Rui-Li Wei
Affiliations
Meta-Analysis

Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis

Jin-Wei Cheng et al. PLoS One. 2012.

Abstract

Background: Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates a role for genetic susceptibility to primary open-angle glaucoma (POAG). The relation between myocilin polymorphisms and POAG susceptibility has been studied in different populations.

Methods: A meta-analysis of 32 published genetic association case-control studies, which examined the relation between POAG and the R46X, R76K, Y347Y, T353I, and Q368X polymorphisms of the myocilin gene, was carried out.

Results: In meta-analysis, significant associations were observed between POAG risk and two myocilin polymorphisms with summarized odds ratio of 4.68 (95%CI, 2.02-10.85) for Q368X and 2.17 (95% CI, 1.32-3.57) for T353I. Both Q368X and T353I were significantly associated with high-tension glaucoma, with summarized odds ratio of 4.26 (1.69, 10.73) and 2.26 (1.37-3.72). In Westerners, significant association was observed for Q368X mutation (odds ratio, 5.17; 95% CI, 2.16-12.40). However, in Asians it was for T353I (odds ratio, 2.17; 95% CI, 1.32-3.57).

Conclusions: There is strong evidence that myocilin polymorphisms are associated with POAG susceptibility, and the prevalence of myocilin mutations might be ethnicity-dependent in Caucasians for Q368X and in Asians for T353I.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Flow diagram of study selection.
Figure 2
Figure 2. Meta-analysis of the association between primary open-angle glaucoma and myocilin Q368X mutation.
Figure 3
Figure 3. Meta-analysis of the association between primary open-angle glaucoma and myocilin T353I mutation.
See this image and copyright information in PMC

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