Polymorphism of DNA repair genes in bronchopulmonary pathology in workers of harmful and dangerous industries

Abstract

Introduction. Polymorphism of DNA repair genes is actively studied in the formation of the individual sensitivity of the genome to damaging mutagenic effects. Objective of the work. To study the distribution of frequencies of alleles and genotypes of DNA repair genes: XPD (rs13181, rs799793) and ERCC1 (rs11615) in workers of asbestos-cement plants and miners to identify risk markers for bronchopulmonary pathology. Material and methods. The study included workers of asbestos-cement plants and miners (n=214). Real-time polymerase chain reaction was used to determine genotypes of XPD (rs13181, rs799793) and ERCC1 (rs11615) genes. Results. The study determined alleles and genotypes associated with the risk of developing bronchopulmonary pathology: - in the population of workers of asbestos-cement plants: XPD*Asn/Asn (rs799793), (p<0.01; χ2=6.62; OR=2,20; 95 %CI: 1,75–2,77); - in the population of miners: XPD*C (rs13181), (p<0.02; χ2=4,99; OR=1,88; 95 %CI: 1,04–3,40); XPD*CC (rs13181), (p<0,003; χ2=8.61; OR=4,29; 95 %CI: 1,41–13,37). The study also detected allele XPD*A (rs13181), which in the population of miners proved to be a marker of resistance to bronchopulmonary pathology (p<0,02; χ2=4.99; OR=0,53; 95 %CI: 0,29–0,96). Conclusions. The study has identified alleles and genotypes associated with the risk of developing bronchopulmonary pathology in the population of workers in harmful and dangerous production facilities of Ukraine. The study has determined the genotype and allele that can be used as biomarkers of resistance to the pathology of the respiratory system. Key words: molecular-genetic markers, XPD and ERCC1, bronchopulmonary pathology.