Panel of genetic markers for predicting the risk of developing dry eye disease of various etiologies

Abstract

Introduction. World statistics indicate an increase in patients, including young people, suffering from dry eye disease (DED). Along with exogenous factors, the development of DED depends on a genetic predisposition. Changes in the expression of genes PTPN22, TRIM21, directly or indirectly affecting the T-cell link of immunity, leads to overproduction of cytokines and, as a consequence, damage to the ocular surface.This study aimed to design a diagnostic panel of genetic markers to determine the risk for DED of various etiologies development.Materials and methods. The study included 154 patients with autoimmune diseases with and without established DED. With a diagnosis of rheumatoid arthritis (RA) n = 79 and primary Sjogren’s syndrome (PSS) n = 75. The control group consisted of 100 people without ophthalmic diseases, 31 patients with exogenous DED. In this study, we use melting curve analysis to confirm the results of the association analysis for polymorphic markers in genes.Results. The prognostic value of the predisposing genotypes of the TRIM21 gene of the markers rs915956 and rs7947461 with the risk of DED in the presence of RA (p ≤ 0.001), the marker rs4144331 at the tendency level (p ≤ 0.1) was determined. The risk of developing DES against the background of PSS is associated with the presence of the predisposing genotypes of the TRIM21 genes, the rs4144331 marker, and the PTPN22 rs33996649 marker (p ≤ 0.001). The association of polymorphic markers of the TRIM21 rs7947461 gene and the PTPN22 gene of the rs33996649 marker (p ≤ 0.01) with the risk of developing exogenous DED was established.Conclusions. The predisposing genotypes were identified and the associations of polymorphic markers of the TRIM21, PTPN22 genes were established. A diagnostic panel of genetic markers has been created to predict DED of various etiologies.