ER22/23EK AND TTH111I POLYMORPHIC VARIANTS IN THE GLUCOCORTICOID RECEPTOR GENE IN PATIENTS WITH BRONCHIAL ASTHMA.

Abstract

Aim: The objective of the study was to evaluate the frequency of the ER22/23EK and Tth111I polymorphic variants in the glucocorticoid receptor (GR) gene in patients with BA and to assess the risk of BA development with regard to these polymorphisms. Materials and Methods: We examined 553 BA patients and 95 apparently healthy individuals. BA was diagnosed according to the 2016 GINA recommendations and its later versions. The study was approved by the Bioethics Committee of the Medical Institute of Sumy State University. The ER22/23EK (rs 6189/6190) and Tth111I (rs10052957) polymorphisms in the GR gene were determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS-17 program. Results: The obtained distribution of genotypes for the ER22/23EK and Tth111I polymorphisms in the GR gene corresponded to the Hardy-Weinberg expectations (p > 0.05). We revealed no significant difference in the distribution of alleles and genotypes for the ER22/23EK polymorphism in the GR gene in patients with asthma and apparently healthy individuals (χ2 = 4.14; p = 0.126); apart from that, we found no statistically significant association with BA risk in any model of inheritance. A statistically significant difference was observed in the distribution of genotypes for the Tth111I polymorphism in the GR gene in patients with asthma and apparently healthy individuals (χ2 = 6.278; p = 0.043). BA risk was 2.69 times higher in the carriers of TT genotype for the Tth111I polymorphism in the GR gene vs. major allele carriers. No gender-specific difference was observed in the distribution of genotypes and alleles for the ER22/23EK and Tth111I polymorphisms in the GR gene. Conclusions: We found no gender-specific difference in the distribution of alleles and genotypes for the ER22/23EK and Tth111I polymorphisms in the GR gene; no difference in the distribution of alleles and genotypes for the ER22/23EK polymorphism in the GR gene in patients with asthma and apparently healthy individuals; and no statistically significant association with BA risk. A statistically significant difference was observed in the distribution of genotypes for the Tth111I polymorphism in the GR gene in patients with asthma and apparently healthy individuals; also, BA risk was 2.69 times higher in the minor allele homozygous patients vs. major allele carriers.