Preview

Hygiene and Sanitation

Advanced search

Impact of polymorphisms of inflammatory response genes on the development of occupational and work-related diseases (literature review)

https://doi.org/10.47470/0016-9900-2026-105-5-541-546

EDN: hrhtsz

Abstract

Inflammation, the key regulators of which are cytokines, is a universal pathogenetic process underlying the development of occupational diseases. Genetic variability in inflammatory response genes determines predisposition of the body to adverse effects of hazards and the disease onset. Gene polymorphisms are considered as biomarkers of susceptibility for identifying risk groups among workers, laying the foundation for personalized disease prevention and pharmacogenetics. In this regard, it is necessary to systematize and analyze research data on the role of polymorphisms of key inflammatory response genes in the formation of individual predisposition to the development of occupational and work-related diseases.

We searched for relevant reports in PubMed, Web of Science, Google Scholar, eLIBRARY, and CyberLeninka databases using the following keywords: occupational diseases, inflammatory response genes, interleukins, TNF-α, and polymorphisms, and selected forty nine scientific papers for the review. Most studies on the influence of inflammatory response gene polymorphisms were found for occupational respiratory and skin diseases. Promising biomarkers for these disorders include TNF-α gene polymorphisms (rs1800629, rs361525); the A allele and AA genotype are associated with the development of pneumoconiosis, silicosis, asbestosis, and occupational dermatitis. Polymorphisms of the IL-1β, IL-4, and IL-6 genes have also been reported to play a role in the development of occupational diseases. However, the alleles and genotypes associated with the risk or protection from occupational diseases vary depending on ethnic characteristics and pre-existing non-occupational conditions.

Conclusions. Polymorphisms of inflammatory response genes make a significant contribution to individual susceptibility to occupational diseases, particularly those affecting the lungs and skin. Their role has been best documented for polymorphisms of the TNF-α, IL-1β, IL-4, and IL-6 genes. However, further large-scale and functional studies taking into account the gene–environment interplay, population characteristics, and phenotype standardization are needed to implement genetic markers in clinical practice.

Contribution:
Kikot A.M., Shaikhova D.R., Bereza I.A. – literature review on the topic and draft manuscript preparation;
Sutunkova M.P. – study conception and design, editing.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version

Conflict of interest. The authors declare no conflict of interest.

Funding. The study had no sponsorship.

Received: March 12, 2026 / Accepted: May 20, 2026 / Published: June 18, 2026

About the Authors

Anna M. Kikot
Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers
Russian Federation

Researcher, Department of Molecular Biology and Electron Microscopy, Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers, 620014, Yekaterinburg, Russian Federation

e-mail: kikotam@ymrc.ru



Daria R. Shaikhova
Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers
Russian Federation

Researcher, Department of Molecular Biology and Electron Microscopy, Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers, 620014, Yekaterinburg, Russian Federation

e-mail: darya.boo@mail.ru



Ivan A. Bereza
Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers
Russian Federation

Researcher, Department of Molecular Biology and Electron Microscopy, Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers, 620014, Yekaterinburg, Russian Federation

e-mail: berezaia@ymrc.ru



Marina P. Sutunkova
Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers
Russian Federation

DSc (Medicine), director, Yekaterinburg Medical Research Center for Prophylaxis and Health Protection in Industrial Workers, 620014, Yekaterinburg, Russian Federation

e-mail: sutunkova@ymrc.ru



References

1. Chair S.Y., Chan J.Y.W., Law B.M.H., Chien W.T. Genetic susceptibility in pneumoconiosis in China: a systematic review. Int. Arch. Occup. Environ. Health. 2023; 96(1): 45–56. https://doi.org/10.1007/s00420-022-01893-1

2. Liu L., Tian X., Guo Y., Yu Y., Wang Y., Wang W., et al. Association between interleukin gene polymorphisms and the risk of pneumoconiosis: a systematic review and meta-analysis. Front. Med. (Lausanne). 2025; 12: 1479730. https://doi.org/10.3389/fmed.2025.1479730

3. Luo X., Xie D., Hu J., Su J., Xue Z. Oxidative stress and inflammatory biomarkers for populations with occupational exposure to nanomaterials: a systematic review and meta-analysis. Antioxidants. 2022; 11(11): 2182. https://doi.org/10.3390/antiox11112182

4. Kazitskaya A.S., Korotenko O.Yu., Yadykina T.K. Effect of the rs1800795 polymorphism of the IL-6 gene on echocardiographic parameters in miners with occupational dust lung pathology. Gigiena i Sanitaria (Hygiene and Sanitation, Russian journal). 2025; 104(4): 429–36. https://doi.org/10.47470/0016-9900-2025-104-4-429-436 https://elibrary.ru/awjnou (in Russian)

5. Funtikova I.S., Smirnova E.L., Poteryaeva E.L., Maksimov V.N. The role of molecular-biological characteristics of the organism in the development of professional sensorineural hearing loss. Meditsina truda i promyshlennaya ekologiya. 2022; 62(5): 322–30. https://doi.org/10.31089/1026-9428-2022-62-5-322-330 https://elibrary.ru/dpryag (in Russian)

6. Zaitseva N.V., Kiryanov D.A., Zemlyanova M.A., Goryaev D.V., Ustinova O.Yu., Shur P.Z. Conceptual foundations of a corporate intelligent risk-based system for analysis, prediction and prevention of occupational and work-related health disorders of workers. Health Risk Analysis. 2023; (4): 19–32. https://doi.org/10.21668/health.risk/2023.4.02.eng https://elibrary.ru/yxpsmk

7. Helmig S., Aliahmadi N., Schneider J. Tumour necrosis factor-α gene polymorphisms in asbestos-induced diseases. Biomarkers. 2010; 15(5): 400–9. https://doi.org/10.3109/1354750X.2010.481365

8. Wang X.T., Ohtsuka Y., Kimura K., Muroi M., Ishida T., Saito J., et al. Antithetical effect of tumor necrosis factor-αgene polymorphism on coal workers’ pneumoconiosis (CWP). Am. J. Ind. Med. 2005; 48(1): 24–9. https://doi.org/10.1002/ajim.20180

9. Ates I., Suzen H.S., Yucesoy B., Tekin I.O., Karakaya A. Association of cytokine gene polymorphisms in CWP and its severity in Turkish coal workers. Am. J. Ind. Med. 2008; 51(10): 741–7. https://doi.org/10.1002/ajim.20632

10. Ates I., Karakaya A., Suzen S.H., Yucesoy B. A genotyping and phenotyping study concerning the possible effects of some inflammatory cytokine gene polymorphisms on the development of CWP. SOJ Immunol. 2017; 5(1): 1–5.

11. Yucesoy B., Vallyathan V., Landsittel D.P., Sharp D.S., Weston A., Burleson G., et al. Association of TNF-α and IL-1 gene polymorphisms with silicosis. Toxicol. Appl. Pharmacol. 2001; 172(1): 75–82.

12. Wang Y.W., Lan J.Y., Yang L.Y., De J.W., Kuang J. TNF-α and IL-1RA polymorphisms and silicosis susceptibility in Chinese workers exposed to silica particles: a case-control study. Biomed. Environ. Sci. 2012; 25(5): 517–25. https://doi.org/10.3967/0895-3988.2012.05.004

13. Kurniawidjaja L.M. Silicosis and its progress influenced by genetic variation on TNF-alpha locus-308, TNF-alpha and IL-10 cytokine on cement factory workers in Indonesia. Pak. J. Biol. Sci. 2014; 17(3): 419–23. https://doi.org/10.3923/pjbs.2014.419.423

14. Kim K.A., Cho Y.Y., Cho J.S., Yang K.H., Lee W.K., Lee K.H., et al. Tumor necrosis factor-α gene promoter polymorphism in coal worker’ pneumoconiosis. Mol. Cell. Biochem. 2002; 234–235(1–2): 205–9. https://doi.org/10.1023/a:1015914409661

15. Corbett E.L., Mozzato-Chamay N., Butterworth A.E., De Cock K.M., Williams B.G., Churchyard G.J., et al. Polymorphisms in the tumor necrosis factor-alpha gene promoter may predispose to severe silicosis in black South African miners. Am. J. Respir. Crit. Care Med. 2002; 165(5): 690–3. https://doi.org/10.1164/ajrccm.165.5.2010050

16. Qu Y., Tang Y., Cao D., Wu F., Liu J., Lu G., et al. Genetic polymorphisms in alveolar macrophage response-related genes, and risk of silicosis and pulmonary tuberculosis in Chinese iron miners. Int. J. Hyg. Environ. Health. 2007; 210(6): 679–89. https://doi.org/10.1016/j.ijheh.2006.11.010

17. Zhukova A.G., Kazitskaya A.S., Yadykina T.K., Logunova T.D. Distribution of polymorphic variants of the TNF-α and TNFRSF1α genes in miners with dust lung pathology. Gigiena i Sanitaria (Hygiene and Sanitation, Russian journal). 2023; 102(7): 670–4. https://doi.org/10.47470/0016-9900-2023-102-7-670-674 https://elibrary.ru/blohxx (in Russian)

18. Gao Z., Dosman J.A., Rennie D.C., Schwartz D.A., Yang I.V., Beach J., et al. Effects of tumor necrosis factor (TNF) gene polymorphisms on the association between smoking and lung function among workers in swine operations. J. Toxicol. Environ. Health A. 2021; 84(13): 536–52. https://doi.org/10.1080/15287394.2021.1896404

19. Kalyuzhnaya E.E. Polymorphism of some cytokine genes and genotoxic status of coal mining workers with diagnosed pulmonary pathology. Vestnik KemRIPK. 2018; (1): 18–29. https://elibrary.ru/xpaihj (in Russian)

20. Volobaev V.P., Larionov A.V., Kalyuzhnaya E.E., Serdyukova E.S., Yakovleva S., Druzhinin V.G., et al. Associations of polymorphisms in the cytokine genes IL1β (rs16944), IL6 (rs1800795), IL12b (rs3212227) and growth factor VEGFA (rs2010963) with anthracosilicosis in coal miners in Russia and related genotoxic effects. Mutagenesis. 2018; 33(2): 129–35. https://doi.org/10.1093/mutage/gex047

21. Helmig S., Grossmann M., Wübbeling J., Schneider J. Interleukin gene polymorphisms in pneumoconiosis. Int. J. Mol. Med. 2012; 30(2): 401–8. https://doi.org/10.3892/ijmm.2012.996

22. Kuzmina L.P., Khotuleva A.G., Kovalevsky E.V., Anokhin N.N., Tskhomariya I.M. Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis. Meditsina truda i promyshlennaya ekologiya. 2020; 60(12): 898–903. https://doi.org/10.31089/1026-9428-2020-60-12-898-903 https://elibrary.ru/ckpiuv (in Russian)

23. Kazitskaya A.S., Zhukova A.G., Yadykina T.K., Gulyaeva O.N., Panev N.I. Contribution of polymorphic variants of proand anti-inflammatory cytokine genes to the development of occupational lung dust pathology in miners. Meditsina truda i promyshlennaya ekologiya. 2023; 63(8): 503–11. https://doi.org/10.31089/1026-9428-2023-63-8-503-511 https://elibrary.ru/bfzggu (in Russian)

24. Hou Z.F., Wang H., Ji S.Q., Kang D.M., Zhao H., Guo Y., et al. Heterozygous Ins/Del genotype of the CASP8 rs3834129 polymorphism significantly decreases the risk of coal workers’ pneumoconiosis in a Chinese Han population: a case-control study. Eur. Rev. Med. Pharmacol. Sci. 2021; 25(24): 7726–33. https://doi.org/10.26355/eurrev_202112_27619

25. Yucesoy B., Vallyathan V., Landsittel D.P., Sharp D.S., Matheson J.M., Burleson F., et al. Polymorphisms of the IL-1 gene complex in coal miners with silicosis. Am. J. Ind. Med. 2001; 39(3): 286–91.

26. Hur G.Y., Ye Y.M., Koh D.H., Kim S.H., Park H.S. IL-4 receptor α polymorphisms may be a susceptible factor for work-related respiratory symptoms in bakery workers. Allergy Asthma Immunol. Res. 2013; 5(6): 371–6. https://doi.org/10.4168/aair.2013.5.6.371

27. Bian L.Q., Mao L., Shi J., Bi Y. Polymorphisms in cyclooxygenase-2 gene and risk of developing coal workers’ pneumoconiosis: a case-control study. Am. J. Ind. Med. 2014; 57(8): 866–71. https://doi.org/10.1002/ajim.22335

28. Han R., Ji X., Wu B., Wang T., Han L., Yang J., et al. Polymorphisms in interleukin 17A gene and coal workers’ pneumoconiosis risk in a Chinese population. BMC Pulm. Med. 2015; 15: 79. https://doi.org/10.1186/s12890-015-0076-1

29. Ponce-Gallegos M.A., Pérez-Rubio G., Ambrocio-Ortiz E., Partida-Zavala N., Hernández-Zenteno R., Flores-Trujillo F., et al. Genetic variants in IL17A and serum levels of IL-17A are associated with COPD related to tobacco smoking and biomass burning. Sci. Rep. 2020; 10(1): 784. https://doi.org/10.1038/s41598-020-57606-6

30. Xu X., Yin J., Zhang J., Xu S., Yang Y., Hai X., et al. Association between the IL-6 polymorphisms and coal workers’ pneumoconiosis in a Chinese Hui population. Eur. J. Inflamm. 2022; 20(5): 1721727X2211287. https://doi.org/10.1177/1721727X221128704

31. Wang M., Wang S., Song Z., Ji X., Zhang Z., Zhou J., et al. Associations of IL-4, IL-4R, and IL-13 gene polymorphisms in coal workers’ pneumoconiosis in China: A case-control study. PLoS One. 2011; 6(8): e22624. https://doi.org/10.1371/journal.pone.0022624

32. Fang G.F., Fan X.Y., Shen F.H. The relationship between polymorphisms of interleukin-4 gene and silicosis. Biomed. Environ. Sci. 2011; 24(6): 678–82. https://doi.org/10.3967/0895-3988.2011.06.013

33. Qian H., Song Z., Wang M., Jia X., Li A., Yang Y., et al. Association of transforming growth factor-β1 gene variants with risk of coal workers’ pneumoconiosis. J. Biomed. Res. 2010; 24(4): 270–6. https://doi.org/10.1016/S1674-8301(10)60038-3

34. Shpagina L.A., Voevoda M.I., Kotova O.S., Maksimov V.N., Orlov P.S., Shpagin I.S., et al. Occupational chronic obstructive pulmonary disease from the point of molecular genetic research. Byulleten’ fiziologii i patologii dykhaniya. 2013; (49): 8–15. https://elibrary.ru/rbqoer (in Russian)

35. Wu F., Qu Y., Tang Y., Cao D., Sun P., Xia Z. Lack of association between cytokine gene polymorphisms and silicosis and pulmonary tuberculosis in Chinese iron miners. J. Occup. Health. 2008; 50(6): 445–54. https://doi.org/10.1539/joh.l8006

36. Melentev A.V., Babanov S.A., Baykova A.G., Lavrentyeva N.E. Molecular and genetic features in various phenotypes of occupational bronchial asthma. Gigiena i Sanitaria (Hygiene and Sanitation, Russian journal). 2023; 102(3): 252–8. https://doi.org/10.47470/0016-9900-2023-102-3-252-258 https://elibrary.ru/lxjtks (in Russian)

37. Akhmadishina L.Z., Korytina G.F., Kochetova O.V., Victorova T.V., Viktorova E.V. Analysis of polymorphisms of genes associated with immune response and tissue remodeling in occupational chronic bronchitis. Genetika (Genetics). 2014; 50(11): 1363. https://doi.org/10.1134/S1022795414110027 https://elibrary.ru/ufrrxr

38. Chen Y., Fan X.Y., Jin Y.L., Yao S.Q., Yun X., Hua Z.B., et al. Association between polymorphisms of interleukin-17A and interleukin-17F genes and silicosis susceptibility in Chinese Han people. Asian Pac. J. Cancer Prev. 2014; 15(20): 8775–8. https://doi.org/10.7314/apjcp.2014.15.20.8775

39. Zhou Y., Zhang Y., Zhao R., Cheng Z., Tang M., Qiu A., et al. Integrating RNA-Seq with GWAS reveals a novel SNP in immune-related HLA-DQB1 gene associated with occupational pulmonary fibrosis risk: A multi-stage study. Front. Immunol. 2022; 12: 796932. https://doi.org/10.3389/fimmu.2021.796932

40. Castro M.C.S., Nani A.S.F., Salum K.C.R., Rolando J.M., Santos J.F.B.D., Castro H.A., et al. Genetic polymorphisms and their effects on the severity of silicosis in workers exposed to silica in Brazil. J. Bras. Pneumol. 2022; 48(5): e20220167. https://doi.org/10.36416/1806-3756/e20220167

41. Dai Y., Leng S., Li L., Niu Y., Huang H., Cheng J., et al. Genetic polymorphisms of cytokine genes and risk for trichloroethylene-induced severe generalized dermatitis: A case-control study. Biomarkers. 2004; 9(6): 470–8. https://doi.org/10.1080/13547500400026920

42. de Jongh C.M., John S.M., Bruynzeel D.P., Calkoen F., van Dijk F.J., Khrenova L., et al. Cytokine gene polymorphisms and susceptibility to chronic irritant contact dermatitis. Contact Dermatitis. 2008; 58(5): 269–77. https://doi.org/10.1111/j.1600-0536.2008.01317.x

43. Landeck L., Visser M., Kezic S., John S.M. Impact of tumour necrosis factor-α polymorphisms on irritant contact dermatitis. Contact Dermatitis. 2012; 66(4): 221–7. https://doi.org/10.1111/j.1600-0536.2011.02045.x

44. Kuzmina L.P., Izmerova N.I., Kolyaskina M.M. The role of polymorphic genes of interleukin-4, -10 and tumor necrosis factor-A in the pathogenesis of occupational allergic dermatoses. Byulleten’ eksperimental’noi biologii i meditsiny. 2015; 159(6): 758–60. https://elibrary.ru/txglnr (in Russian)

45. Borisova A.I., Bakirov A.B., Kabirova E.F., Abdrakhmanova E.R., Karimov D.O., Zaydullin I.I., et al. Molecular genetic predictors of allergic dermatitis development among individuals exposed to hazardous occupational factors. Meditsina truda i ekologiya cheloveka. 2025; (3): 39–55. https://elibrary.ru/astfhk (in Russian)

46. Shagalina A.U., Bakirov A.B., Masyagutova L.M., Karimov D.O. Predicting the risk for occupational allergic skin diseases development. Meditsina truda i ekologiya cheloveka. 2015; (1): 52–6. https://elibrary.ru/tqgqex (in Russian)

47. Li Y., Pang Y., Chen D., Lu F., Tian H., Qin F., et al. Association of the interaction between occupational hazard factors and IL-1β gene polymorphism with cognitive function in electrolytic aluminum workers. Front. Genet. 2025; 16: 1591908. https://doi.org/10.3389/fgene.2025.1591908

48. Yadykina T.K., Mikhailova N.N., Panev N.I., Korotenko O.Yu., Zhukova A.G., Semenova E.A., et al. Clinical and genetic features of the formation of concomitant visceral pathology in workers with industrial fluorosis. Meditsina truda i promyshlennaya ekologiya. 2020; 60(3): 144–50. https://doi.org/10.31089/1026-9428-2020-60-3-144-150 https://elibrary.ru/cnfcrt (in Russian)

49. Mukhammadiyeva G.F., Shaikhlislamova E.R., Karimov D.D., Karimov D.O., Yakupova T.G., Valova Ya.V., et al. Analysis of candidate gene polymorphism associations with vibration syndrome. Ekologiya cheloveka. 2024; 31(10): 721–9. https://doi.org/10.17816/humeco642869 https://elibrary.ru/zsaxgu (in Russian)

50. Karimov D.D., Shaykhlislamova E.R., Muhammadieva G.F., Karimov D.O., Baygildin S.S., Gizatullina A.A. Polymorphism of genes of the cytokine system in pathogenesis of the vibration disease among workers of mining and processing enterprises. Gigiena i Sanitaria (Hygiene and Sanitation, Russian journal). 2025; 104(1): 52–7. https://doi.org/10.47470/0016-9900-2025-104-1-52-57 https://elibrary.ru/keodiu (in Russian)

51. Carvalho L.C.L., Marchiori L.L.M., Melo J.J., Maciel S.M., Poli-Frederico R.C. Interleukin-1β gene polymorphism and hearing loss related to the history of occupational noise exposure in Brazilian elderly. Noise Health. 2013; 15(64): 160–4. https://doi.org/10.4103/1463-1741.112363

52. Chernyak Yu.I., Merinova A.P. Analysis of polymorphic loci of candidate genes in patients with occupational diseases. Gigiena i Sanitaria (Hygiene and Sanitation, Russian journal). 2023; 102(7): 689–94. https://doi.org/10.47470/0016-9900-2023-102-7-689-694 https://elibrary.ru/glwiya (in Russian)

53. Lan Q., Zhang L., Shen M., Smith M.T., Li G., Vermeulen R., et al. Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene. Cancer Res. 2005; 65(20): 9574–81. https://doi.org/10.1158/0008-5472.CAN-05-1419


Review

For citations:


Kikot A.M., Shaikhova D.R., Bereza I.A., Sutunkova M.P. Impact of polymorphisms of inflammatory response genes on the development of occupational and work-related diseases (literature review). Hygiene and Sanitation. 2026;105(5):541-546. (In Russ.) https://doi.org/10.47470/0016-9900-2026-105-5-541-546. EDN: hrhtsz

Views: 36

JATS XML


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 0016-9900 (Print)
ISSN 2412-0650 (Online)
X