Analysis of candidate gene polymorphism associations with vibration syndrome

BACKGROUND: Identifying molecular genetic markers associated with a high risk of occupational diseases facilitates the development of timely preventive strategies. The molecular genetic basis of vibration syndrome remains insufficiently understood.

AIM: To investigate the associations between polymorphisms in the SOD2, TNF-α, IL-1β, MMP-1, and IL-6 genes and vibration syndrome.

METHODS: A case–control study was conducted involving 71 patients diagnosed with vibration syndrome. Patients diagnosed with vibration syndrome were consecutively recruited from those undergoing examination and treatment at the Ufa Research Institute of Occupational Medicine and Human Ecology between 2022 and 2023. The control group included 76 individuals with no occupational exposure to vibration. Genotyping of polymorphic variants was performed using real-time polymerase chain reaction with locus-specific fluorescent-labeled DNA probes and specific oligonucleotide primers.

RESULTS: A statistically significant association was found between the rs4880 polymorphism of the SOD2 gene and the development of vibration syndrome: the T allele was identified as a risk factor, whereas the C allele appeared to have a protective effect. No statistically significant differences were found in the genotype and allele frequencies of the rs361525 (TNF-α), rs16944 (IL-1β), rs1799750 (MMP-1), and rs1800795 (IL-6) polymorphisms between patients with vibration syndrome and the control group.

CONCLUSION: The rs4880 polymorphism of the SOD2 gene is associated with an increased risk of developing vibration syndrome. No significant associations were found for polymorphisms in the TNF-α, IL-1β, MMP-1, or IL-6 genes and developing vibration syndrome. These findings may serve as a basis for developing screening programs aimed at identifying individuals with an increased risk of developing vibration syndrome.