Genotyping Possibilities in Determining the Etiology of Dry Eye Disease
The etiology of dry eye disease (DED), also called dry keratoconjunctivitis, is diverse. There are a large number of risk factors for the development of the disease, the number of which is increasing. The studies conducted so far in this area do not fully reflect the pathogenetic mechanisms and patterns of development of the DED. An objective ophthalmological examination with the study of anamnestic data will not always allow a comprehensive assessment of the condition of the eye surface, predict the course of DED and, most importantly, determine the cause of the disease. Knowledge of the pathogenetic features of the syndrome is important for its timely diagnosis and subsequent treatment. Molecular genetic analysis can help in determining the etiology of DED during differential diagnosis, thereby providing a personalized approach when prescribing therapy. Purpose. To determine the etiology of DED based on genotyping of polymorphic markers of the genes THBS1, GTF2I, MUC1, TRIM21, STAT4, PTPN22. Materials and methods. 108 patients with DED of various etiologies were examined. All patients underwent an impression-cytological examination of the conjunctiva and laser scanning confocal microscopy. The genetic study was carried out by analyzing the melting curves of DNA. Results. The association of the marker rs4144331 of the TRIM21 gene with the risk of developing DED on the background of primary Sjogren’s syndrome (PSS), on the background of rheumatoid arthritis (RA) was proved with a high degree of reliability. For the marker rs7582694 of the STAT4 gene, a reliable association with the risk of developing DED against the background of PSS was established. When analyzing the frequency distribution of genotypes of polymorphic markers of the PTPN22 gene, a reliable association with the risk of developing DED against the background of PSS was established. For the predisposing TT genotype of the polymorphic marker rs117026326 of the GTF2I gene, an association with the risk of developing DED (p=0.095) and PSS (p=0.075) was revealed at the trend level, an association with the risk of developing DED against the background of RA was not established. Conclusion. The revealed predictor genes (THBS1, MUC1, TRIM21, STAT4, PTPN22, GTF2I) allow us to establish the etiology of the development of DED.