Polymorphisms of genes of DNA repair enzymes and indicators of genome instability in coal mine workers

Abstract

Introduction. Coal industry is one of the main economy sectors of many countries. However, it poses a danger to the environment and human health. Since the Kemerovo region is a region with a developed industry, the problem of maintaining genetic homeostasis is highly relevant. Miners are exposed to various harmful factors that can act as genotoxicants and cause various DNA damage.The aim of the study was to explore the associations of polymorphic variants of DNA repair genes with chromosomal instability in coal mining workers.Materials and methods. Polymorphic variants of genes of enzymes of reparation DNA (XPD (rs13181), XPG (rs17655), XRCC2 (rs3218536), XRCC3 (rs861536), XRCC4 (rs2075685), XRCC4 (rs1805377)) and chromosomal aberrations in blood lymphocytes of 307 miners of coal mines in Kuzbass, 338 residents of the Kemerovo region who did not work in industrial enterprises were analyzed.Results. The frequency of chromosomal aberrations in the group of miners (4.01±0.14) was significantly higher than in the group of individuals who did not work in production (1.67±0.06, p<0.0000005). We found that allelic variants in genes XPD (rs13181), XRCC3 (rs861536), XRCC4 (rs2075685), are associated with the increased chromosomal damage in miners.Conclusions. Coal production has a negative impact on the genome of workers and can lead to the formation of cytogenetic disorders, which determines the need to develop measures for the comprehensive prevention of diseases caused by the accumulation of DNA damage. The results of the study will expand the existing understanding of the formation of the human genetic apparatus individual sensitivity to the effects of genotoxic factors, as well as formulate recommendations for coal mining workers in accordance with their genetic characteristics.Conflict of interests. The authors declare no conflict of interests.