Associations of nuclear DNA disorders with individual variants of the DNA repair system genes APEX1, ERCC2, ERCC5, PARP1 and hOGG1 in workers of coal thermal power plants

Abstract

Combinations of genetic variants and environmental factors are responsible for the development of many human diseases. Information on individual capacity to accumulate DNA damages is essential to advance the development of personalized disease prevention in environmentally exposed populations. Coal-fired thermal power plants burn huge amounts of coal per year and emit corresponding amounts of toxic gases, ash, and volatile organic compounds. The elements that make up coal are a large group of diverse pollutants associated with threats to human health and the environment. The current work is based on identifying the risks associated with the health of workers at coal-fired thermal power plants. The study is devoted to the assessement of the DNA damage degree in connection with individual sensitivity in 455 workers of coal-fired thermal power plants in the city of Kemerovo and 533 residents of the same region not associated with production. The research materials are represented by 988 samples of peripheral venous blood from residents of the Kemerovo region. Control donors were selected according to the gender, age, and smoking status of coal-fired power plant workers. Micronucleus testing with a cytokinetic block on peripheral blood lymphocytes was used to register DNA disorders. Determination of the influence of genetic factors on the degree of DNA damage was carried out using allele-specific polymerase chain reaction of polymorphic variants of the DNA repair system genes APEX1 rs1130409, ERCC2 rs13181, PARP1 rs1136410, hOGG1 rs1052133 and ERCC5 rs17655. Increased frequencies of DNA disorders were detected in carriers of the heterozygous genotype of the APEX1 gene and minor variants of APEX1, ERCC2, hOGG1 and ERCC5.