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

<h4>Background</h4>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 po...

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Main Authors: Jin-Wei Cheng, Shi-Wei Cheng, Xiao-Ye Ma, Ji-Ping Cai, You Li, Guo-Cai Lu, Rui-Li Wei
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0046632&type=printable
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author Jin-Wei Cheng
Shi-Wei Cheng
Xiao-Ye Ma
Ji-Ping Cai
You Li
Guo-Cai Lu
Rui-Li Wei
author_facet Jin-Wei Cheng
Shi-Wei Cheng
Xiao-Ye Ma
Ji-Ping Cai
You Li
Guo-Cai Lu
Rui-Li Wei
author_sort Jin-Wei Cheng
collection DOAJ
description <h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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).<h4>Conclusions</h4>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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spelling doaj-art-bcb29eb6c8bb4c95ad02fbdcea963cd82025-06-28T05:31:42ZengPublic Library of Science (PLoS)PLoS ONE1932-62032012-01-0179e4663210.1371/journal.pone.0046632Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.Jin-Wei ChengShi-Wei ChengXiao-Ye MaJi-Ping CaiYou LiGuo-Cai LuRui-Li Wei<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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).<h4>Conclusions</h4>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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0046632&type=printable
spellingShingle Jin-Wei Cheng
Shi-Wei Cheng
Xiao-Ye Ma
Ji-Ping Cai
You Li
Guo-Cai Lu
Rui-Li Wei
Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
PLoS ONE
title Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
title_full Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
title_fullStr Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
title_full_unstemmed Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
title_short Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
title_sort myocilin polymorphisms and primary open angle glaucoma a systematic review and meta analysis
url https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0046632&type=printable
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