Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis - PubMed (original) (raw)

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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.

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References

1. 1. Quigley HA (1996) Number of people with glaucoma worldwide. Br J Ophthalmol 80: 389–393. - PMC - PubMed
2. 1. Weih LM, Nanjan M, McCarty CA, Taylor HR (2001) Prevalence and predictors of open-angle glaucoma: results from the visual impairment project. Ophthalmology 108: 1966–1972. - PubMed
3. 1. Wiggs JL (2007) Genetic etiologies of glaucoma. Arch Ophthalmol 125: 30–37. - PubMed
4. 1. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, et al. (1997) Identification of a gene that causes primary open angle glaucoma. Science 275: 668–670. - PubMed
5. 1. Fingert JH, Stone EM, Sheffield VC, Alward WL (2002) Myocilin glaucoma. Surv Ophthalmol 47: 547–561. - PubMed

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This study is supported by Shanghai Rising-Star Program (grant No. 12QA1404600), Shanghai Municipal Natural Science Foundation (grant No. 10ZR1439300), and National Natural Science Foundation of China (grant No. 81000374 and 81170874). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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