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Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
Published on: June 3, 2018
Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis
Jin-Wei Cheng1, Shi-Wei Cheng, Xiao-Ye Ma
1Department of Ophthalmology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, China.
Plos One
|October 3, 2012
Summary
Genetic variations in the myocilin gene are linked to primary open-angle glaucoma (POAG) risk. Specific myocilin mutations, Q368X and T353I, show significant associations, with prevalence varying by ethnicity.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Glaucoma represents the primary cause of irreversible global blindness.
- Genetic factors play a crucial role in the susceptibility to primary open-angle glaucoma (POAG).
- The association between myocilin gene polymorphisms and POAG risk has been investigated across diverse populations.
Purpose of the Study:
- To conduct a comprehensive meta-analysis evaluating the relationship between specific myocilin gene polymorphisms and POAG.
- To determine the pooled effect of myocilin polymorphisms on POAG risk and high-tension glaucoma.
- To explore potential ethnic variations in the prevalence of myocilin mutations associated with POAG.
Main Methods:
- A meta-analysis was performed on 32 published genetic association case-control studies.
- The analysis focused on five myocilin gene polymorphisms: R46X, R76K, Y347Y, T353I, and Q368X.
- Statistical analysis included calculating summarized odds ratios and confidence intervals to assess risk association.
Main Results:
- Significant associations were found between POAG risk and the Q368X (OR=4.68) and T353I (OR=2.17) myocilin polymorphisms.
- Both Q368X and T353I polymorphisms were significantly linked to high-tension glaucoma.
- Ethnic-specific associations were observed: Q368X in Western populations (OR=5.17) and T353I in Asian populations (OR=2.17).
Conclusions:
- Myocilin polymorphisms are strongly associated with POAG susceptibility.
- The prevalence of specific myocilin mutations (Q368X and T353I) appears to be dependent on ethnicity.
- These findings highlight the importance of genetic factors and ethnic background in POAG development.
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