Single nucleotide polymorphisms associated with an increased risk of development or severity of occupational diseases under the influence of harmful production factors

The scientific field related to the study of the genetic and epigenetic predisposition to the development of occupational diseases under the influence of harmful industrial factors is currently based on the use of high-performance molecular biological methods of genomic DNA analysis. Of particular interest are new methods for determining the primary structure of genomic DNA using technologies of mass parallel sequencing or Next Generation sequencing (NGS) and hybridization analysis of DNA using high-density microarrays (micromatrix analysis). The above technologies, combined with the use of statistical metadata processing methods and artificial intelligence capabilities, open up new perspectives in assessing and predicting the risks of developing socially significant diseases. The resulting data set can be crucial in solving the tasks of occupational risk management and prevention of occupational diseases under the influence of harmful industrial factors. The study aims to present the works on the search for functional single-nucleotide polymorphisms that are markers of an increased risk of developing certain cancers and occupational respiratory diseases in industrial workers exposed to carcinogens, xenobiotics, heavy metals, VGDF (vapors, gases, dust and fumes, vapors, gases, dust and smoke). The review pays special attention to the description of the identified genetic markers of predisposition to the development of chronic obstructive pulmonary disease (COPD, chronic obstructive pulmonary disease), one of the most common respiratory pathologies. In a number of cases, the influence of the ethnicity of the studied groups of workers on the risk of developing occupational diseases in the presence of one or another variant of polymorphism has been demonstrated. For further screening studies, it is advisable to use technological platforms (diagnostic systems) for multiplex analysis within no more than a few dozen identified genetic markers for which an association with the development of occupational diseases has been reliably shown.

Ethics. This study did not require the conclusion of an Ethics Committee.

Contributions:
Kuzmina L.P. — concept and design of the review, writing, editing;
Markelov M.L. — review design, collection, analysis and interpretation of data (literary sources), text writing;
Markelov K.M. — analysis and interpretation of data (literary sources), translation and validation of presentation of medical materials, writing, editing;
Yudin V.S. — concept and design of the review, writing, editing.

Funding. The study had no funding.

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

Received: 05.06.2025 / Accepted: 24.06.2025 / Published: 05.08.2025

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