Predicting the risk of developing vibration disease and vegetative-sensory polyneuropathy under vibration exposure using analysis of candidate gene polymorphism

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UDC: 
613.644: 575.174.015.3
DOI: 
10.21668/health.risk/2024.2.10.eng
Authors: 

G.F. Mukhammadiyeva1, E.R. Shaikhlislamova1,2, D.D. Karimov1, D.O. Karimov1, E.F. Repina1, T.G. Yakupova1, E.R. Kudoyarov1

Organization: 

1Ufa Research Institute of Occupational Health and Human Ecology, 94 Stepana Kuvykina St., Ufa, 450106, Russian Federation
2Bashkir State Medical University, 3 Lenina St., Ufa, 450008, Russian Federation

Abstract: 

In this study, we investigated the association of IL-6 (rs1800795), TNF-α (rs361525), IL-1β (rs16944), MMP-1 (rs1799750) and SOD2 (rs4880) gene polymorphisms with the risk of developing vibration disease (VD) and autonomic sensory polyneuropathy (ASPN).

We examined 45 patients with VB, 10 patients with ASPN and 76 people who were not exposed to vibration in their professional activities. Polymorphic gene variants were determined using a real-time polymerase chain reaction.

The polymorphic variant rs16944 of the IL-1β gene was established to carry both the G allele (p = 0.027) and the homozygous G/G genotype (p = 0.015) with elevated frequency in the group of patients with VD relative to the control group. Allele A of the rs361525 polymorphic variant of the TNF-α gene was more common in patients with ASPN as compared to controls, (p = 0.047). Statistically significant differences in polymorphic variants rs1800795 of the IL-6 gene, rs1799750 of the MMP-1 gene and rs4880 of the SOD2 gene were not found in both groups of patients as compared to the control group. However, when comparing groups of patients with each other, we established that the G allele of the polymorphic variant rs1800795 of the IL-6 gene was more often recorded in patients with ASPN (p = 0.032).

The results obtained by examining the patients with VD and ASPN made it possible to establish that the rs361525 polymorphic variant of the TNF-α gene is associated with an elevated risk of developing ASPN, while carriers of the homozygous genotype G/G of the rs16944 polymorphic variant of the IL-1β gene have a high prognostic risk of developing VD. Polymorphic variants of the IL-1β and TNF-α genes can be considered probable molecular genetic predictors of VD and ASPN.

Keywords: 
vibration disease, autonomic-sensory polyneuropathy, gene polymorphism, IL-6, TNF-α, IL-1β, MMP-1, SOD2, risk
Mukhammadiyeva G.F., Shaikhlislamova E.R., Karimov D.D., Karimov D.O., Repina E.F., Yakupova T.G., Kudoyarov E.R. Predicting the risk of developing vibration disease and vegetative-sensory polyneuropathy under vibration exposure using analysis of candidate gene polymorphism. Health Risk Analysis, 2024, no. 2, pp. 109–116. DOI: 10.21668/health.risk/2024.2.10.eng
References: 
  1. Shaikhlislamova E.R., Valeeva E.T., Volgareva A.D., Kondrova N.S., Galimova R.R., Masyagutova L.M. Occupational diseases caused by physical factors in the Republic of Bashkortostan. Meditsina truda i ekologiya cheloveka, 2018, no. 4 (16), pp. 63–69 (in Russian).
  2. Babanov S.A., Baraeva R.A., Budash D.S., Boguslavsky D.G. Professional polyneuropathies: differential diagnosis, expertise of professional suitability, medical rehabilitation and methods of physiotherapeutic exposure. Fizioterapevt, 2018, no. 4, pp. 37–49 (in Russian).
  3. Babanov S.A. Polyneuropathy syndrome in vibration disease from exposure to general vibration: assessment and pre-diction (place of electroneuromyography). Okhrana truda i tekhnika bezopasnosti na promyshlennykh predpriyatiyakh, 2020, no. 10, pp. 63–71. DOI: 10.33920/pro-4-2010-08 (in Russian).
  4. Zhukova A.G., Gorokhova L.G. A retrospective in molecular and genetic studies of production-related pathology. Meditsina v Kuzbasse, 2020, vol. 20, no. 3, pp. 5–11. DOI: 10.24412/2687-0053-2021-3-5-11 (in Russian).
  5. Baranov V.S. Genomics and predictive medicine. Sibirskii zhurnal klinicheskoi i eksperimental'noi meditsiny, 2021, vol. 36, no. 4, pp. 14–28. DOI: 10.29001/2073-8552-2021-36-4-14-28 (in Russian).
  6. Yadykina T.K., Korotenko O.Yu., Semenova E.A., Bugaeva M.S., Zhukova A.G. Study of Glutathione-S-transferase (GST) T1 and M1 genes in aluminum industry workers with comorbid cardiovascular pathology. Meditsina truda i promyshlen-naya ekologiya, 2023, vol. 63, no. 8, pp. 519–527. DOI: 10.31089/1026-9428-2023-63-8-519-527 (in Russian).
  7. Tanaka T., Narazaki M., Kishimoto T. IL-6 in inflammation, immunity, and disease. Cold Spring Harb. Perspect. Biol., 2014, vol. 6, no. 10, pp. a016295. DOI: 10.1101/cshperspect.a016295
  8. Guan Y., Wang S., Wang J., Meng D., Wu H., Wei Q., Jiang H. Gene polymorphisms and expression levels of inter-leukin-6 and interleukin-10 in lumbar disc disease: a meta-analysis and immunohistochemical study. J. Orthop. Surg. Res., 2020, vol. 15, no. 1, pp. 54. DOI: 10.1186/s13018-020-01588-8
  9. Trovato M., Sciacchitano S., Facciolà A., Valenti A., Visalli G., Di Pietro A. Interleukin 6 signalling as a valuable cornerstone for molecular medicine (Review). Int. J. Mol. Med., 2021, vol. 47, no. 6, pp. 107. DOI: 10.3892/ijmm.2021.4940
  10. Harun-Or-Roshid, Mollah N.H., Jesmin. A comprehensive meta-analysis comprising 149 case-control studies to investigate the association between IL-6 gene rs1800795 polymorphism and multiple disease risk. Gene, 2023, vol. 861, pp. 147234. DOI: 10.1016/j.gene.2023.147234
  11. Bozovic I., Perovic V., Basta I., Peric S., Stevic Z., Popadic D., Vukovic I., Stojanov A., Milosevic E. Cytokine Gene Polymorphisms in Patients with Chronic Inflammatory Demyelinating Polyneuropathy. Cells, 2023, vol. 12, no. 16, pp. 2033. DOI: 10.3390/cells12162033
  12. Bayley J.-P., Ottenhoff T.H.M., Verweij C.L. Is there a future for TNF promoter polymorphisms? Genes Immun., 2004, vol. 5, no. 5, pp. 315–329. DOI: 10.1038/sj.gene.6364055
  13. Mekinian A., Tamouza R., Pavy S., Gestermann N., Ittah M., Mariette X., Miceli-Richard C. Functional study of TNF-α promoter polymorphisms: literature review and meta-analysis. Eur. Cytokine Netw., 2011, vol. 22, no. 2, pp. 88–102. DOI: 10.1684/ecn.2011.0285
  14. Auer J., Weber T., Berent R., Lassnig E., Lamm G., Eber B. Genetic polymorphisms in cytokine and adhesion molecule genes in coronary artery disease. Am. J. Pharmacogenomics, 2003, vol. 3, no. 5, pp. 317–328. DOI: 10.2165/00129785-200303050-00003
  15. Manginas A., Tsiavou A., Chaidaroglou A., Giamouzis G., Degiannis D., Panagiotakos D., Cokkinos D.V. Inflamma-tory cytokine gene variants in coronary artery disease patients in Greece. Coron. Artery Dis., 2008, vol. 19, no. 8, pp. 575–582. DOI: 10.1097/MCA.0b013e32831286e8
  16. Sheng N., Gao Y., Li H., Wang W., Geng L., Zhang B., Huang Q., Wang X., Sun L. The Associations of rs1799724 and rs361525 With the Risk of Ankylosing Spondylitis Are Dependent on HLA-B27 Status in a Chinese Han Population. Front. Immunol., 2022, vol. 13, pp. 852326. DOI: 10.3389/fimmu.2022.852326
  17. Loures M.A.R., Alves H.V., de Moraes A.G., da Silva Santos T., Lara F.F., Neves J.S.F., Macedo L.C., Teixeira J.J.V. [et al.]. Association of TNF, IL12, and IL23 gene polymorphisms and psoriatic arthritis: meta-analysis. Expert Rev. Clin. Immunol., 2019, vol. 15, no. 3, pp. 303–313. DOI: 10.1080/1744666X.2019.1564039
  18. Lukens J.R., Gross J.M., Calabrese C., Iwakura Y., Lamkanfi M., Vogel P., Kanneganti T.-D. Critical role for in-flammasome-independent IL-1β production in osteomyelitis. Proc. Natl Acad. Sci. USA, 2014, vol. 111, no. 3, pp. 1066–1071. DOI: 10.1073/pnas.1318688111
  19. Ye W., Ma R.-F., Su P.-Q., Huang D.-S., Liu S.-L., Chen W.-J., Wang X.-G. [Association of single nucleotide polymorphisms of IL-1b with lumbar disc disease]. Yi Chuan, 2007, vol. 29, no. 8, pp. 923–928. DOI: 10.1360/yc-007-0923 (in Chinese).
  20. Yao Z.-L., Lin Q.-R., Hu Y.-J., Hou Y.-L., Ma Y.-F., Yu B., Jiang N. Interleukin-1 Beta Gene Polymorphism rs16944 May Associate with Increased Susceptibility to Extremity Chronic Osteomyelitis in Chinese Han Population. Biomed Res. Int., 2019, vol. 2019, pp. 7483537. DOI: 10.1155/2019/7483537
  21. Harrison P., Pointon J.J., Chapman K., Roddam A., Wordsworth B.P. Interleukin-1 promoter region polymorphism role in rheumatoid arthritis: a meta-analysis of IL-1B-511A/G variant reveals association with rheumatoid arthritis. Rheumatology (Oxford), 2008, vol. 47, no. 12, pp. 1768–1770. DOI: 10.1093/rheumatology/ken374
  22. Vincenti M.P., Brinckerhoff C.E. Transcriptional regulation of collagenase (MMP-1, MMP-13) genes in arthritis: in-tegration of complex signaling pathways for the recruitment of gene-specific transcription factors. Arthritis Res., 2002, vol. 4, no. 3, pp. 157–164. DOI: 10.1186/ar401
  23. Kaspiris A., Khaldi L., Grivas T.B., Vasiliadis E., Kouvaras I., Dagkas S., Chronopoulos E., Papadimitriou E. Sub-chondral cyst development and MMP-1 expression during progression of osteoarthritis: an immunohistochemical study. Orthop. Traumatol. Surg. Res., 2013, vol. 99, no. 5, pp. 523–529. DOI: 10.1016/j.otsr.2013.03.019
  24. Sundar S.S., Jayesh S.R., Hussain S. Association of matrix metalloproteinase 1 gene promoter mutation and residual ridge resorption in edentulous patients of South Indian origin. J. Pharm. Bioallied Sci., 2015, vol. 7, suppl. 2, pp. S652–S655. DOI: 10.4103/0975-7406.163591
  25. Luo S., Deng M., Long X., Li J., Xu L., Fang W. Association between polymorphism of MMP-1 promoter and the susceptibility to anterior disc displacement and temporomandibular joint osteoarthritis. Arch. Oral Biol., 2015, vol. 60, no. 11, pp. 1675–1680. DOI: 10.1016/j.archoralbio.2015.08.001
  26. Geng R., Xu Y., Hu W., Zhao H. The association between MMP-1 gene rs1799750 polymorphism and knee osteoar-thritis risk. Biosci. Rep., 2018, vol. 38, no. 5, pp. BSR20181257. DOI: 10.1042/BSR20181257
  27. Rech T.F., Moraes S.B.C., Bredemeier M., de Paoli J., Brenol J.C.T., Xavier R.M., Chies J.A.B., Simon D. Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis. Genet. Mol. Res., 2016, vol. 15, no. 4. DOI: 10.4238/gmr15049077
  28. Ghaffarzadeh A., Bagheri M., Khadem-Vatani K., Abdi Rad I. Association of MMP-1 (rs1799750)-1607 2G/2G and MMP-3 (rs3025058)-1612 6A/6A Genotypes With Coronary Artery Disease Risk Among Iranian Turks. J. Cardiovasc. Phar-macol., 2019, vol. 74, no. 5, pp. 420–425. DOI: 10.1097/FJC.0000000000000727
  29. Jacobsen L.M., Schistad E.I., Storesund A., Pedersen L.M., Espeland A., Rygh L.J., Røe C., Gjerstad J. The MMP1 rs1799750 2G allele is associated with increased low back pain, sciatica, and disability after lumbar disk herniation. Clin. J. Pain, 2013, vol. 29, no. 11, pp. 967–971. DOI: 10.1097/AJP.0b013e31827df7fd
  30. Hecht F., Pessoa C.F., Gentile L.B., Rosenthal D., Carvalho D.P., Fortunato R.S. The role of oxidative stress on breast cancer development and therapy. Tumour Biol., 2016, vol. 37, no. 4, pp. 4281–4291. DOI: 10.1007/s13277-016-4873-9
  31. Alateyah N., Gupta I., Rusyniak R.S., Ouhtit A. SOD2, a Potential Transcriptional Target Underpinning CD44-Promoted Breast Cancer Progression. Molecules, 2022, vol. 27, no. 3, pp. 811. DOI: 10.3390/molecules27030811
  32. Gavriilidis C., Miwa S., von Zglinicki T., Taylor R.W., Young D.A. Mitochondrial dysfunction in osteoarthritis is associated with down-regulation of superoxide dismutase 2. Arthritis Rheum., 2013, vol. 65, no. 2, pp. 378–387. DOI: 10.1002/art.37782
  33. Loeser R.F., Carlson C.S., Del Carlo M., Cole A. Detection of nitrotyrosine in aging and osteoarthritic cartilage: Correlation of oxidative damage with the presence of interleukin-1beta and with chondrocyte resistance to insulin-like growth factor 1. Arthritis Rheum., 2002, vol. 46, no. 9, pp. 2349–2357. DOI: 10.1002/art.10496
  34. Valenti L., Conte D., Piperno A., Dongiovanni P., Fracanzani A.L., Fraquelli M., Vergani A., Gianni C. [et al.]. The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis. J. Med. Genet., 2004, vol. 41, no. 12, pp. 946–950. DOI: 10.1136/jmg.2004.019588
  35. Souiden Y., Mallouli H., Meskhi S., Chaabouni Y., Rebai A., Chéour F., Mahdouani K. MnSOD and GPx1 polymor-phism relationship with coronary heart disease risk and severity. Biol. Res., 2016, vol. 49, pp. 22. DOI: 10.1186/s40659-016-0083-6
  36. Synowiec E., Wigner P., Cichon N., Watala C., Czarny P., Saluk-Bijak J., Miller E., Sliwinski T. [et al.]. Single-Nucleotide Polymorphisms in Oxidative Stress-Related Genes and the Risk of a Stroke in a Polish Population-A Preliminary Study. Brain Sci., 2021, vol. 11, no. 3, pp. 391. DOI: 10.3390/brainsci11030391
Received: 
12.03.2024
Approved: 
07.05.2024
Accepted for publication: 
20.06.2024

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