Introduction. Working conditions at coal-fired power plants cause an increased risk of the formation of chromosomal damage in workers. The contribution of the variability of the structure of the genes controlling the cell cycle and apoptosis to the occurrence of cytogenetic disorders induced by such mutagens has been little studied. Material and methods. The polymorphic variants of the genes: TP53 (rs1042522), CHEK2 (rs555607708), ATM (rs1801516), TGF-β1 (rs1800469), and the level of chromosomal aberrations (CA) in the lymphocytes of the blood were studied. Three hundred twenty-six workers of coal-fired power plants and 267 individuals who did not work in industrial enterprises were examined. All individuals were Caucasians, residents of Kemerovo (Western Siberia, Russia). Results. The level of CA in blood lymphocytes in thermal power plant workers was established to be statistically significantly higher than that of residents of the same locality who never works in industrial enterprises (3.05 ± 0.09% versus 1.67 ± 0.07%, p = 0, 000001). The prevalence of the polymorphic variants of the TP53 (rs1042522), CHEK2 (rs555607708), ATM (rs1801516), TGF-β1 (rs1800469) genes in the group of workers was the same to those in the comparison group and corresponded to the global data obtained in Caucasians. In the group of workers with the TT genotype of the TGF-β1 gene, the frequency of metaphases with chromosome damage was statistically significantly higher than in individuals with the CC genotype (4.07 ± 0.41% versus 2.85 ± 0.10%, p = 0.006). Discussion. For the first time a significant contribution of polymorphic variants of TGF-β1 genes to the formation of chromosomal damage in working coal-fired power plants was revealed. This may be associated with an increased level of expression of the multifunctional cytokine TGF-β1 in owners of the TT genotype and its ability to influence proliferation, apoptosis, telomerase activity, and other critical cellular processes. Conclusion. The results of the study I, ndicate that not only the complex of industrial genotoxicants, but also individual genetic characteristics of the organism can influence on the formation of cytogenetic disorders in workers at thermal power plants.
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.
This literature review is devoted to the study of the contribution of polymorphic variants of
DNA repair genes to the formation of individual sensitivity to environmental factors
Изучены ассоциации полиморфного варианта rs1800469 гена TGFβ с повреждениями хромосом у шахтеров Кузбасса. Выявлено повышение частоты аберраций у шахтеров, по сравнению с контрольной группой (р=0,000001). Показано увеличение частоты одиночных фрагментов у носителей генотипов ТТ и СТ, а также хроматидных обменов у обладателей генотипа ТТ.
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