Chromosomal Instability and Genetic Polymorphism in Miners and Workers of Coal Thermal Power Plants

Abstract

Polymorphic variants of genes of enzymes of xenobiotic biotransformation (CYP1A1 (rs4646903), CYP1A2 (rs762551), CYP2D6 (rs35742686), CYP2E1 (rs2031920), EPHX1 (rs1051740), GSTP1 (rs1138272, rs1695), GSTM1 (del), GSTT1 (del)), DNA reparation (XRCC1 (rs25489, rs25487, rs1799782), APEX1 (rs1130409), hOGG1 (rs1052133), PARP1 (rs1136410), XPD (rs13181), XPG (rs17655), XPC (rs2228001), ATM (rs1801516), NBS1 (rs1805794), XRCC2 (rs3218536), XRCC3 (rs861539), XRCC4 (rs2075685), Ligase IV (rs1805389)), antioxidant system (SOD2 (rs4880), GPx1 (rs1050450), CAT (rs1001179)), cell cycle control and apoptosis (TP53 (rs1042522)), cytokines (TGFβ (rs1800469), TNFα (rs1800629)), folate metabolism (MTHFR (rs1801133), MTR (rs1805087)), and chromosomal aberrations in blood lymphocytes of 288 miners of coal mines in Kuzbass, 365 workers of coal-fired thermal power plants, and 642 residents of Kemerovo oblast who did not work at industrial enterprises were analyzed. The frequency of chromosomal aberrations in the group of miners (4.06 ± 0.15%) and workers at thermal power plants (3.19 ± 0.09%) was significantly higher than in the group of individuals who did not work in production (1.53 ± 0.05%, p < 0.00001). The increased frequency of chromosome aberrations in miners is associated with genetic variants XPD rs13181 and XRCC4 rs2075685, and in power engineers with variants of the TGFβ gene rs1800469.