RESUMEN
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. AIM: to reveal the role of genetic polymorphisms of growth factors in predisposition to developing POAG that is refractory to local hypotensive therapy. MATERIAL AND METHODS: 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). RESULTS: 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 Ñ.-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%. CONCLUSION: 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.
Asunto(s)
Antihipertensivos , Glaucoma de Ángulo Abierto , Factor I del Crecimiento Similar a la Insulina/genética , Receptores de Somatomedina/genética , Factor A de Crecimiento Endotelial Vascular/genética , Adulto , Anciano , Antihipertensivos/administración & dosificación , Antihipertensivos/efectos adversos , Resistencia a Medicamentos , Femenino , Predisposición Genética a la Enfermedad , Glaucoma de Ángulo Abierto/diagnóstico , Glaucoma de Ángulo Abierto/tratamiento farmacológico , Glaucoma de Ángulo Abierto/genética , Humanos , Masculino , Persona de Mediana Edad , Gravedad del Paciente , Polimorfismo de Nucleótido Simple , Receptor IGF Tipo 1RESUMEN
The present review is devoted to genetic studies of primary open-angle glaucoma (POAG). Today, POAG is considered a multifactorial disease with threshold effect, which is associated with single or multiple genes mutation as well as external influences. According to molecular genetic studies, three causative genes (MYOC, optinevrin, WDR 36) and several dosens of candidate genes are involved in the development of POAG.