Genetic studies in primary open-angle glaucoma (a review)
Starikova D.I., Churnosov M.I.

Belgorod State National Research Institute

The paper reviews genetic studies in primary open-angle glaucoma (POAG). Most cases of POAG are genetically determined. Currently, 25 genes triggering or related to glaucoma are recognized. At least 10% of glaucoma cases are associated with three genes, i.e., myocilin (MYOC), optineurin (OPTN), and WD repeat domain 36 (WDR36). Most studies worldwide examine these genes. The involvement of xenobiotics detoxification system genes (CYP1B1, glutathione S-reductase) and apoptotic genes into glaucoma development is investigated. Tumor necrosis factor (TNF) family members and their receptors characterized by broad-spectrum biological activity are one of the key components of dysregulated apoptosis. A number of studies on associations between TNF and TNF receptor gene polymorphism and glaucoma in different populations were performed. Additionally, growth factors play an important pathogenic role in glaucoma. Several papers uncover the associations between Toll-like receptor genes and POAG and evaluate other candidate genes (e.g., ribosomal genes) involved into the susceptibility to glaucoma. However, most studies on genetic susceptibility were performed by foreign authors. Single Russian studies are fragmentary and assess the involvement of certain genes into POAG development.

Key words: primary open-angle glaucoma, genetic polymorphisms, candidate genes, apoptosis, tumor necrosis factor, population.
For citation: Starikova D.I., Churnosov M.I. Genetic studies in primary open-angle glaucoma (a review) // RMJ. Clinical ophthalmology. 2017. № 1. P.49 –52.