MMP1 and SOD2 genes polymorphism in occupational diseases pathogenesis in workers of mining and processing enterprises

Introduction. Vibration disease (VD) is occupational disease that develops with prolonged exposure to industrial vibration. VD is one of the most common occupational pathologies. This disease is characterized by pathogenetic mechanisms complexity, polymorphic symptoms, chronic course, therapeutic resistance, and often leads to disability of patients. As a rule, changes in the cardiovascular and nervous systems, musculoskeletal system and metabolic processes are observed with VD. The aim of study was to find associations of polymorphic variants rs1799750 of MMP1 and rs4880 of SOD2 genes with vibration disease. Materials and methods. 73 people with various forms of VB were examined. The control group consisted of 73 people who were not exposed to vibration in their professional activities. The distribution of polymorphic loci rs1799750 of MMP1 gene and rs4880 of SOD2 gene was studied. Statistical analysis was performed using the IBM SPSS Statistica v.21 and Microsoft Excel software packages. Results. It was revealed that *d allele of rs1799750 of MMP1 gene associated with VD (p=0.046), but its frequency is lower among VD patients with sensorineural hearing loss compared to VD patients without this syndrome (p=0.035). The frequency of *T/*T genotype and the *T allele of rs4880 is increased among patients with peripheral angiodystonic syndrome of VD. Limitations. The limitations of this work include the small sample size and the fact that the study participants from the control sample work at a different enterprise, which does not allow us to exclude the influence of other environmental factors, but allows us to consider them as a reference population. Conclusion. Thus, we were unable to identify a direct association of the studied genotypes with VD, but the association with peripheral angiodystonic syndrome suggests that these polymorphisms affect the pathogenesis of VD.