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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Public Library of Science (PLoS)
2012-01-01
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| 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. |
| format | Article |
| id | doaj-art-bcb29eb6c8bb4c95ad02fbdcea963cd8 |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-bcb29eb6c8bb4c95ad02fbdcea963cd82025-08-20T02:35:00ZengPublic 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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