4.3 Review

Molecular genetics of primary open-angle glaucoma

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Summary: This study conducted a systematic review and meta-analysis to investigate the association between CYP1B1 gene polymorphisms and the risk of developing primary open angle glaucoma (POAG). The results showed a significant increase in the prevalence of CYP1B1 gene polymorphisms among POAG patients compared to control subjects. Furthermore, the prevalence was higher in juvenile-onset patients. These findings suggest that carrying polymorphic genetic variants in the CYP1B1 gene may increase the risk of POAG, particularly in cases of early-onset.

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Summary: Rare EFEMP1 coding variants may cause juvenile open-angle glaucoma (JOAG) through a mechanism involving protein aggregation and retention. This is the first report of EFEMP1 variants causing JOAG, expanding the EFEMP1 disease spectrum. The study results suggest that EFEMP1 mutations may be a relatively common cause of JOAG in Filipino families, an ethnically diverse population.

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Summary: Juvenile-onset open-angle glaucoma (JOAG) is a specific type of glaucoma that is diagnosed before the age of 40. It can be familial or non-familial, with myocilin mutations being the most common association. JOAG is characterized by high intraocular pressures and often requires surgery. Early diagnosis, prompt management, and lifelong monitoring are crucial in preventing disease progression.

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Prevalence of MYOC risk variants for glaucoma in different populations

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Puya Gharahkhani et al.

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Nan Zhang et al.

Summary: Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness globally, with a prevalence that increases with age. Men are more susceptible to POAG than women, and Africa has the highest prevalence of POAG among all continents. Variations in risk factors such as age, gender, and population geographic location contribute to the widely varying population-based prevalence of POAG.

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Hari Jayaram

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Yang Yang et al.

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ABCA1 Regulates IOP by Modulating Cav1/eNOS/NO Signaling Pathway

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Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

Stuart MacGregor et al.

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Yutao Liu et al.

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Polymorphism rs11656696 in GAS7 Is Not Associated with Primary Open Angle Glaucoma in a Saudi Cohort

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Sunil Kumar et al.

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