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.