Distribution of polymorphic variants of the TNF-α and TNFRSF1α genes in miners with dust lung pathology

Introduction. Long-term exposure to coal-rock dust on the body causes the development of systemic inflammation, one of the development mechanisms of which is an increase in the production of pro-inflammatory cytokines as follows: TNF-α, IL-1β, IL-2, IL-6. The development and course of occupational pathology were shown to depend on the individual characteristics of the body of those who works in hazardous conditions. In this regard, it is necessary to establish the significance of the polymorphism of the TNF-α and TNFRSF1α genes in the development of dust lung pathology in workers of the main occupations of the mines in the South of Kuzbass. 

The aim of the study was to investigate the prevalence of polymorphic variants of the TNF-α (rs1800629) and TNFRSF1α (rs4149584) genes in miners with dust lung pathology.

Materials and methods. A survey of one hundred twenty seven miners working for a long time in the mines of the south of Kuzbass was carried out. Of these: 69 miners with prolonged exposure to high concentrations of coal-rock dust with a previously proven diagnosis of dust lung pathology, 58 miners without a proven diagnosis of dust lung pathology working in the same sanitary and hygienic conditions (control). The typing of the TNF-α (rs1800629) and TNFRSF1α (rs4149584) genes was carried out using the Real-Time method.

Results. The GG rs1800629 TNF-α genotype were shown to be a potent molecular genetic marker of the risk of developing dust lung pathology, the chance of detecting it in the group of the miners with dust pathology is almost 4 times higher than in the control group. The carriage of the A allele and the heterozygous AG rs1800629 TNF-α genotype reduce the probability of developing dust lung pathology. It has been established that the GG rs4149584 TNFRSF1α genotype can be a molecular and genetic marker of the risk of developing dust lung pathology, the chance of detecting it in the group of the miners with dust pathology is 2.6 times higher than in the control group.

Limitations. The study was limited by relatively small size of the groups under study.

Conclusion. The carriage of homozygous GG genotypes of the rs1800629 and rs4149584 polymorphic loci of the TNF-α and TNFRSF1α genes, respectively, is associated with the risk of developing dust lung pathology in miners in the South of Kuzbass. The carriage of the A allele and the heterozygous AG rs1800629 TNF-α genotype reduce the probability of developing dust lung pathology.

Compliance with ethical standards. The examination of the patients complied with the ethical standards of the Bioethical Committee of the Research Institute for Complex Problems of Hygiene and Occupational Diseases, elaborated in accordance with the Helsinki Declaration of the World Association “Ethical Principles for Conducting Scientific Medical Research Involving Humans” as amended in 2013 and “Rules of Clinical Practice in the Russian Federation”, approved by the Order of the Ministry of Health of the Russian Federation No. 266 of June 19, 2003. Each study participant gave informed voluntary written consent to participate in the study and to publish personal medical information in depersonalized form in the Hygiene and Sanitation, Russian journal. 

Contribution:
Zhukova A.G. — the concept and design of the study, writing a text, editing;
Kazitskaya A.S. — collection and processing of material, statistical processing, editing;
Yadykina T.K. — collection and processing of material;
Logunova T.D. — editing.
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: March 23, 2023 / Accepted: June 7, 2023 / Published: August 30, 2023