Molecular and genetic features in various phenotypes of occupational bronchial asthma

Introduction. Occupational asthma has long been considered as a separate, independent disease, but in recent years, more and more attention is paid to its heterogeneity. Molecular genotyping opens up new possibilities in the search for a more targeted and personalized approach to the treatment of occupational asthma, and in the development of an individual strategy for its prevention.

The aim of the study was to determine genetic markers of the risk of developing occupational bronchial asthma under exposure to sensitizing substances by assessing polymorphic variants rs2069812 of the IL-5 gene and polymorphic variants rs1837253 of the TSLP gene.

Materials and methods. The study was conducted in one hundred seventy patients with various phenotypes of occupational bronchial asthma and 50 people in the control group. Genotyping was performed by real-time polymerase chain reaction using primers and probes developed using the PrimerQuest program (Intergrated DNA Technologies, Inc.).

Results. For the first time, genetic markers of the risk for occupational bronchial asthma under exposure to sensitizing substances were identified to include polymorphic variants rs2069812 of the IL-5 gene and polymorphic variants rs1837253 of the TSLP gene. It makes it possible to recommend the determination of these genetic markers during in-depth periodic medical examinations in people working under conditions of exposure to sensitizing and irritating substances in the presence of clinical and functional, immunological changes.

Limitations. The study has regional (Samara region) and occupational (detailed working conditions in the studied comparison groups) limitations.

Conclusion. The identified marker profiles of occupational asthma genotypes can optimize the approach to diagnosis, treatment, and prevention of this pathology, and expand the range of criteria for predicting the course of the disease.

Compliance with ethical standards. The study was carried out within the framework of the complex topic of the Department of Occupational Diseases and Clinical Pharmacology named after Honored Scientist of the Russian Federation Professor V.V. Kosarev of Samara State Medical University “A systematic approach to early diagnosis, prevention and prediction of the impact of low-intensity production factors on the health of workers” (state registration number AAAA-A18-118122190069-6, date of statement registered on 21.12.2018). The study was approved by the local Ethics Committee of the Samara State Medical University of the Ministry of Health of the Russian Federation on 23.11.2021. 

Patient consent. Each participant of the study (or his/her legal representative) gave informed voluntary written consent to participate in the study and publish personal medical information in an impersonal form in the journal "Gigiena i Sanitariya (Hygiene and Sanitation, Russian journal)". 

Contribution:
Melentev A.V. — concept and design of the study, editing, approval of the final version of the article, responsibility for the integrity of all parts of the article;
Babanov S.A. — concept and design of the study, collection and processing of material, statistical processing, writing the text;
Baykova A.G. — concept and design of the study, collection and processing of material, statistical processing, editing, responsibility for the integrity of all parts of the article;
Lavrentyeva N.E. — the concept and design of the study, writing the text.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version

Conflict of interest. The authors declare no conflict of interest.

Acknowledgement. The study had no sponsorship.

Received: December 12, 2022 / Accepted: March 24, 2023 / Published: April 20, 2023