Phenotypes of occupational bronchial asthma from the standpoint of molecular genetic typing (polymorphisms rs2069812 of the IL-5 gene and rs1837253 of the TSLP gene)

Abstract

Introduction. Currently, occupational bronchial asthma is considered as a pheno typically and genetically heterogeneous disease. Molecular genotyping opens up new op portunities in assessing the development, predicting the characteristics of the course and personalized approach to pharmacotherapy of occupational bronchial asthma, as well as in developing an individual strategy for its prevention. The purpose of the study is to determine clinical, immunological and genetic markers of the risk of developing PrAD under conditions of exposure to sensitizing substances based on the results of assessing the rs2069812 polymorphic variants of the IL5 gene and the rs1837253 polymorphic variants of the TSLP gene. Materials and methods. The study included 170 patients with various phenotypes of PBA and 50 controls. Genotyping was performed by real-time polymerase chain reaction using primers and probes designed using PrimerQuest (Intergrated DNA Technologies, Inc.). Re sults. The study identified for the first time genetic markers of PBA risk under conditions of exposure to sensitizing substances: polymorphic variants rs2069812 of the IL-5 gene and polymorphic variants rs1837253 of the TSLP gene. This allows us to recommend the deter mination of these immunological parameters and genetic markers during in-depth periodic medical examinations of people working under conditions of exposure to sensitizing and irri tating substances, for differential diagnosis of various phenotypes of occupational bronchial asthma. Limitations of the study. The study has regional (Samara region) and professional (in terms of detailing working conditions in the comparison groups studied) limitations. Conclusion. Identified genotypic features in various phenotypes of occupational bronchial asthma, established profiles of genotypes of occupational bronchial asthma can optimize the approach to early diagnosis, prognosis and prevention and pharmacotherapy of this dis ease, as well as recommend a list of genetic studies for use during preliminary and periodic medical examinations, in-depth examination of patients occupational bronchial asthma in occupational disease clinics and occupational pathology centers, to establish a genetic pre disposition to the development of occupational bronchial asthma, rational employment in professions associated with sensitizing and irritating substances.