The search for genetic polymorphisms associated with vibration disease

Introduction. Vibration disease (VD) remains one of the most common occupational pathologies. Identification of molecular genetic markers associated with the development of VD is important for both improving the methodology of assessing occupational risks and developing personalized approaches to diagnosis, treatment, and prevention of the disease. However, there is a lack of information on the contribution of genetic aspects to the development of VD. In this work, there was made an assessment of the presence of associations between HTR1B, ADRA2A gene polymorphisms and the risk of VD development.

The aim of the study is to assess the presence of associations between polymorphisms of the HTR1B and ADRA2A genes and the risk of developing VD.

Materials and methods. The study involved eighty VD patients. The control group consisted of 103 cases without contact with vibration. Polymorphisms rs6298 of the HTR1B gene and rs7090046 of the ADRA2A gene were analyzed by polymerase chain reaction using specific oligonucleotide primers and locus-specific DNA probes in real time.

Results. Despite certain trends in the distribution of genotype and allele frequencies of the polymorphic loci rs6298 of the HTR1B gene and rs7090046 of the ADRA2A gene, statistically significant differences between VD patients and the control group were not found.

Limitations. Limitations of this study include the small sample size and the analysis of only one polymorphism of each of the two genes (HTR1B and ADRA2A).

Conclusion. Based on the obtained data, it can be assumed that the polymorphic loci rs6298 of the HTR1B gene and rs7090046 of the ADRA2A gene cannot serve as reliable markers of predisposition to VD in the studied sample. However, continuation of the study in larger samples and taking into account other genetic factors may be useful for a deeper understanding of the molecular mechanisms involved in the pathogenesis of VD.

Compliance with ethical standards. The protocol of the study was approved by the Committee on Biomedical Ethics of the Ufa Research Institute of Occupational Health and Human Ecology (Minutes No. 01-01 of January 22, 2024). Written informed consent was obtained from all participants.

Contribution:
Muhammadiyeva G.F. – the concept and design of the study, collection and processing of material, statistical processing, writing text;
Shaihlislamova E.R. – the concept and design of the study, editing;
Valova Ya.V., Yakupova T.G. – collection and processing of material;
Karimov D.D. – collection and processing of material, statistical processing;
Repina E.F. – editing;
Karimov D.O. – the concept and design of the study.
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.

Funding. The work was carried out within the framework of the industry research program of the Federal Service for Supervision of Consumer Rights Protection and Human Welfare for 2021–2025. "Scientific justification for the national system for ensuring sanitary and epidemiological well-being, managing health risks and improving the quality of life of the Russian population" clause 2.2.9.

Received: February 6, 2025 / Accepted: June 26, 2025 / Published: August 20, 2025

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