Analysis of associations between polymorphic variants of some genes encoding transcription factors and the risk of developing vibration disease

This work assesses possible associations between polymorphisms of the IRX1, SMAD3, TEAD1 genes and the risk of developing vibration disease (VD), an occupational disease that occurs under prolonged exposure to industrial vibration.

The study involved 80 patients with VB and 105 people in the control group living in the Republic of Bashkortostan. Real-time polymerase chain reaction was used to genotype polymorphic variants of rs12653958 of the IRX1 gene, rs7163797 of the SMAD3 gene, and rs3993110 of the TEAD1 gene. Statistical data analysis was performed using the χ² criterion and calculation of the odds ratio (OR) with a 95 % confidence interval.

No significant associations were found between polymorphic variants rs12653958 of the IRX1 gene, rs7163797 of the SMAD3 gene, rs3993110 of the TEAD1 gene and the risk of developing VD. Although certain trends were observed in the distribution of genotype and allele frequencies, no statistically significant differences were found between the patient group and the control group. The most pronounced trend was noted for the polymorphic variant rs3993110 of the TEAD1 gene: the frequency of the A/A genotype in patients was 35.0 % versus 24.5 % in the control (p = 0.172).

The results of the study indicate that the studied polymorphic variants are probably not significant risk factors for the development of VD. However, the identified trends justify the need for further study on larger and ethnically heterogeneous samples. The obtained data expand the understanding of the molecular genetic basis of VD and can be used in developing personalized approaches to predicting the risk of developing occupational diseases. A promising direction is the study of additional genetic markers and their pathogenetic role in the development of the disease.