Genetic Factors of Glucocorticoid Resistance in Patients with Grave's Ophthalmopathy
The Purpose. Determination of the relationship between the presence of glucocorticoid receptor gene (NR3C1) in patients with Grave's ophthalmopathy and the response to glucocorticoid therapy (GCT). Material and methods. Of the 112 patients, 40 (35.7%) patients were selected, of whom 15 (37.5%) were men and 25 (62.5%) women who received GCT. Two groups were identified: the first - 34 (85%) patients with a positive effect from the conducted GST, the second - 6 (15%) patients, who had no effect. For the analysis of single nucleotide substitutions in the studied genes, the method of DNA melting curves analysis was used. Results. When comparing the data obtained in the two studied groups, statistically significant differences in the frequency of polymorphism of the GC receptor NR3C1 39739G>A/rs6189 in heterozygous type (GA) (p < 0.05), while for this polymorphism, the prevalence in the group with positive effect of GCT is shown. Conclusion. In the present work, significant differences in the frequency of polymorphism ofNR3C1 39739G>A/rs6189 in heterozygous type between the two groups of patients with Grave's ophthalmopathy with different effects from glucocorticoid therapy were identified. The presence of polymorphism of the gene NR3C1 39739G>A/rs6189 by the heterozygous type indicates the patient's susceptibility to a decrease in the effect of glucocorticoid therapy, which can be considered as a criterion for predicting the response to therapy in patients with Grave's ophthalmopathy. Considering that the occurrence of some polymorphisms corresponded to statistical significance at the trend level (0.05 < p < 0.1), it is necessary to continue studies on a larger sample of patients in order to obtain statistically significant results.