Studying the association between genetic polymorphism of growth factors and the development of primary open-angle glaucoma

• Published in: Vestnik oftal'mologii Vol. 133; no. 3; p. 9
• Main Authors: Kirilenko, M Yu, Tikunova, E V, Sirotina, S S, Polonikov, A V, Bushueva, O Yu, Churnosov, M I
• Format: Journal Article
• Language: English; Russian
• Published: Russia (Federation) 2017
• Subjects: Adult; Aged; Antihypertensive Agents - administration & dosage; Antihypertensive Agents - adverse effects; Drug Resistance; Female; Genetic Predisposition to Disease; Glaucoma, Open-Angle - diagnosis; Glaucoma, Open-Angle - drug therapy; Glaucoma, Open-Angle - genetics; Humans; Insulin-Like Growth Factor I - genetics; Male; Middle Aged; Patient Acuity; Polymorphism, Single Nucleotide; Receptors, Somatomedin - genetics; Vascular Endothelial Growth Factor A - genetics; statistical model; growth factors; primary open-angle glaucoma (POAG); polymerase chain reaction (PCR); gene polymorphisms; ineffective treatment
• ISSN: 0042-465X
• DOI: 10.17116/oftalma201713339-15

Primary open-angle glaucoma (POAG) is a multifactorial disease, etiopathogenesis of which largely depends on growth factors. Possessing a variety of medical and biological effects, these cytokines may influence the development and progression of POAG.
to reveal the role of genetic polymorphisms of growth factors in predisposition to developing POAG that is refractory to local hypotensive therapy.
The object of the study were 162 patients with stage II-III POAG, in whom local hypotensive therapy was inefficient, 90 patients with stage II-III POAG well controlled on local hypotensive therapy, and 191 controls. The material for the study was venous blood taken from the cubital vein of a proband. Isolation of genomic DNA was performed by phenol-chloroform extraction. Analysis of genetic polymorphisms of growth factors was performed through allelic discrimination. For that, synthesis of DNA was carried out via polymerase chain reaction (PCR).
It is found that the T IGFR-1 genetic variant (OR=1.34) and a combination of the C VEGF-A and T IGFR-1 genetic variants (OR=1.90) are risk factors of developing POAG that is refractory to local hypotensive therapy. A statistical model for predicting such a risk has been proposed that includes: VEGF-A с.-958C>T genetic marker (rs 833,061), age, concomitant non-inflammatory ocular diseases, microvascular changes in the conjunctiva, the degree of pigmentation of the angle of the anterior chamber, and pseudoexfoliative syndrome. Recognition accuracy of the model is 90.42%.
The T IGFR-1 genetic variant and a combination of the C VEGF-A and T IGFR-1 genetic variants increase the risk of developing POAG that is refractory to local hypotensive therapy.