[Assessment of environmental and genetic risk factors for the development of primary open-angle glaucoma]. / Sredovye i geneticheskie faktory riska razvitiya pervichnoi otkrytougol'noi glaukomy.

Primary open-angle glaucoma (POAG) is a multifactorial disease with both environmental and genetic factors involved in its pathogenesis. PURPOSE: The study evaluates the role of a number of environmental and genetic risk factors in the risk of POAG development and builds a prognostic model. MATERIAL AND METHODS: The study group included 197 patients aged 44 to 90 years (98 - patients with POAG, 99 - the control group), who were treated in the Republican Clinical Ophthalmological Hospital of the Ministry of Health of the Republic of Tatarstan named after Prof. E.V. Adamyuk. RESULTS: Age, family history of the disease, presence of type 2 diabetes mellitus, arterial hypertension were revealed to be associated with an increased risk of POAG development. The polymorphisms of matrix metalloproteinase MMP9 and vitamin D receptor (VDR) genes were shown to influence the development of POAG. The prognostic model considering these factors had high sensitivity and specificity (72.0% and 82.6% respectively). CONCLUSION: The prognostic model based on environmental and genetic factors is important for assessing the risk of POAG and early detection of the disease.

[The effect of systemic antihypertensive drugs on the risk of primary open-angle glaucoma]. / Vliyanie sistemnykh antigipertenzivnykh preparatov na risk razvitiya glaukomy.

Primary open-angle glaucoma (POAG) is a common disease. Elevated blood pressure has been reported as a significant risk factor for the development and progression of POAG. PURPOSE: The goal of the present study was to test the effect of systemic antihypertensive drugs on the risk of POAG using cis-Mendelian randomization (cis-MR) approach. MATERIAL AND METHODS: The study involved summary statistics from genome-wide association studies (GWAS) for POAG (15229 cases and 177 473 controls) and from GWAS for systolic blood pressure meta-analysis (757 601 individuals). Drug targets for beta-blockers and for calcium channel blockers and genes coding these targets were identified via DrugBank. Genetic variants within the regions of these genes were selected for the Mendelian randomization analysis. RESULTS: The effect of a 10-mm Hg decrease in systolic blood pressure caused by calcium channel blockers on the risk of POAG amounted to: odds ratio (OR) 0.90 (95% CI 0.63-1.30, p=0.59). For beta blockers the cis-MR estimated effect on the risk of POAG was OR=0.95 (95% CI 0.34-2.70, p=0.92). CONCLUSION: The results of the present study do not confirm the hypothesis of causal effect of antihypertensive drugs intake on the risk of developing POAG.