SUMMARY. The maintaining the integrity of DNA is an indispensable condition of the normal functioning of the cell. The role of polymorphism of DNA repair genes in formation of individual sensitivity of the genome to damaging mutagenic influences is actively studied. The purpose of the work was to study the distribution of frequency of genotypes of the gene of ATM (rs664677) in workers of hazardous and harmful industries for identification of risk markers to development of bronchopulmonary pathology. The study included workers of asbestos-cement plants and miners (n = 214). The genotypes of the gene of the ATM (rs664677) were determined in real time by the polymerase chain reaction method. The study revealed that the genotype ATM∙T/T is associated with the risk of developing bronchopulmonary pathology in the professional group of workers at asbestos cement plants (P = 0,02; χ2 = 4.98; OR = 3,47; 95% CI: 1,01–12,51) and miners (OR = 1,97; 95% CI: 0,70–5,53). Also, genotypes have been established that provide resistance to development of the respiratory system pathology: in the group of workers of asbestos-cement plants (ATM∙A/A (OR = 0,84; 95% CI: 0,45–1,58), ATM∙A/T (OR = 0,73; 95% CI: 0,41–1,33)) and for miners (ATM∙А/Т (OR = 0,63 (0,28–1,43)). For the first time the obtained results point to importance of polymorphism of the gene of ATM (rs664677) of the Double – strand break repair in development of bronchopulmonary pathology in workers of hazardous and harmful industries of Ukraine.
Keywords: SNP, ATM, bronchopulmonary pathology
![Current Issue](/site/img/Cytology_Genetics_en182x254.gif)
Full text and supplemented materials
References
1. Izmerov, N.F. and Chuchalin, A.G., Occupational Diseases of the Respiratory System, Moscow: Geotar-Media, 2015.
2. Andrushchenko, T.A., Goncharov, S.V., and Dosenko, V.E., Correlations between polymorphisms of double-strand break DNA repair genes and risk of bronchopulmonary pathology development in hazardous industries workers, Fiziol. Zh., 2018, vol. 64, no. 5, pp. 26–31. https://doi.org/10.15407/fz64.05.026
3. Porru, S., Pavanello, S., Carta, A., Arici, C., Simeone, C., Izzotti, A., and Mastrangelo, G., Complex relationships between occupation, environment, DNA adducts, genetic polymorphisms and bladder cancer in a case-control study using a structural equation modeling, PLoS One, 2014, vol. 9, no. 4. e94566. https://dx.doi.org/10.1371%2Fjournal.pone.0094566
4. Litvinov, S.V., Main repair pathways of double-strand breaks in the genomic DNA and interactions between them, Cytol. Genet., 2014, vol. 48, no. 3, pp. 189–202. https://doi.org/10.3103/S0095452714030062
5. Shin, A., Lee, K.M., Ahn, B., Park, C.G., and Noh, S.K., Genotype-phenotype relationship between DNA repair gene genetic polymorphisms and DNA repair capacity, Asian Pac. J. Cancer, 2008, no. 9, pp. 501–505. PMID: 18990028.
6. Kuschel, B., Auranen, A., McBride, S., Novik, K.L., and Antoniou, A., Variants in double-strand break repair genes and breast cancer susceptibility, Hum. Mol. Genet., 2002, no. 11, pp. 1399–1440.
7. Thacker, J. and Zdzienicka, M.Z., The XRCC genes: expanding roles in DNA double-strand break repair, DNA Repair (Amst.), 2004, no. 3, pp. 1081–1090. https://doi.org/10.1016/j.dnarep.2004.04.012
8. Zienolddiny, S., Campa, D., and Lind, H., Polymorphisms of DNA repair genes and risk of nonsmall cell lung cancer, Carcinogenesis, vol. 27, no. 3, pp. 560–567. https://doi.org/10.1093/carcin/bgi232
9. Weber, A.M., Drobnitzky, N., Devery, A.M., Bokobza, S.M., Adams, R.A., Maughan, T.S., and Ryan, A.J., Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer, Oncotarget, 2016, vol. 7, no. 38, pp. 60807–60822. https://dx.doi.org/10.18632%2Foncotarget.11845
10. Liu, J., Wang, X., Ren, Y., Li, X., Zhang, X., and Zhou, B., Effect of single nucleotide polymorphism Rs189037 in ATN gene on risk of lung cancer in Chinese: a case-control study, PLoS One, 2014, vol. 9, no. 12. e115845. https://dx.doi.org/10.1371%2Fjournal.pone.0115845
11. Pranik, N.B., Goncharov, S.V., Gurianova, V.L., Maidannik, V.G., Khaitovych, M.V., Moibenko, O.O., and Dosenko, V.E., Analysis of association between 11 single-nucleotide polymorphisms and endothelium-dependent vasodilation in children with type 1 diabetes mellitus, Fiziol. Zh., 2016, vol. 62, no. 1, pp. 43–52. https://doi.org/10.15407/fz62.01.043
12. Huang, W., Cai, S., Wang, W., Zhang, Q., and Liu, A., Association between XRCC1 and XRCC3 polymorphisms with lung cancer risk: a meta-analysis from case-control studies, PLoS One, 2013, vol. 8, no. 8, e68457. https://dx.doi.org/10.1371%2Fjournal.pone.0068457