The IL-6-174C/G polymorphism analysis in Ukrainian residents as prospects for biomedical and pharmacogenetic uses
DOI:
https://doi.org/10.24959/nphj.23.120Keywords:
IL-6 gene; IL-6-174C/G; polymorphism; Ukraine; allele frequency; Hardy–Weinberg equilibriumAbstract
It is reliably determined that the presence of the G allele in the 174C/G polymorphic region of the IL-6 gene promoter and a higher level of IL-6 are more commonly observed among patients suffering from various metabolic disorders and obesity, malignant tumors, type 2 diabetes, periodontitis, oxidative stress. Over time, muscle damage and inflammation processes develop.
Aim. To study the frequency of the IL-6-174C/G single nucleotide polymorphism in the Ukrainian population.
Materials and methods. Buccal swab samples for the DNA analysis were collected from 102 healthy volunteers (48 males, 54 females, Ukrainian residents, predominantly ethnical Ukrainians). Genotyping to determine the IL-6-174C/G polymorphism was performed on DNA samples from the buccal epithelium using the polymerase chain reaction followed by RELP. Control of the genotype distribution for compliance with the Hardy–Weinberg equilibrium was performed using the χ2 criterion.
Results and discussion. The distribution of genotypes of the IL-6-174C/G polymorphism in the Ukrainian population samples was as follows: CC – 46 %, CG – 49 %, and GG – 5 % of residents. The frequency of the IL-6-174C/G polymorphism allele in the population was pС – 0.71 and qG – 0.29. The population structure did not deviate from the Hardy–Weinberg equilibrium since there was no difference between the theoretically expected and actual frequencies of three genotypes.
Conclusion. The data obtained demonstrates the presence of the IL-6-174C/G polymorphism in the Ukrainian population.
References
Sehgal, P. B., Zilberstein, A., Ruggieri, R. M., May, L. T., Ferguson-Smith, A., Slate, D. L. et al. (1986). Human chromosome 7 carries the beta 2 interferon gene. Proc Natl Acad Sci USA, 83, 5219-22.
Stouthard, J. M., Romijn, J. A., Van der Poll, T., Endert, E., Klein, S., Bakker, P. J. et al. (1995). Endocrinologic and metabolic effects of interleukin-6 in humans. Am J Physiol, 268, E813-9.
Kubaszek, A., Pihlajamäki, J., Punnonen, K., Karhapää, P., Vauhkonen, I., Laakso, M. (2003). The C-174G promoter polymorphism of the IL-6 gene affects energy expenditure and insulin sensitivity. Diabetes, 52 (2), 558-61.
Frisky, A. P., Yurnadi, H. M., Niniarty, D., Nurtami, S., Winoto, S., Elza, I. A. (2017). Distribution of Interleukin-6 Gene Polymorphism (-174 G/C) in Head and Neck Cancer Patients in the Indonesian Population, A Preliminary Study. J Int Dent Med Res, 10 (Special Issue), 551-554.
Iacopetta, B., Grieu, F., Joseph, D. (2004). The -174 G/C gene polymorphism in inter-leukin-6 is associated with an aggressive breast cancer phenotype. Br J Cancer, 90(2), 419-22.
Totaro, F., Cimmino, F., Pignataro, P., Acierno, G., De Mariano, M., Longo, L. et al. (2013). Impact of Interleukin-6 –174 G>C Gene Promoter Polymorphism on Neuroblastoma. PLoS One, 8 (10), e76810.
Saxena, M., Agrawal, C., Srivastava, N., Banerjee, M. (2014). Interleukin-6 (IL-6)-597 A/G (rs1800797) & -174 G/C (rs1800795) gene polymorphisms in type 2 diabetes. Indian J Med Res, 140 (1), 60-68.
Braga, M. P., Maciel, S. M., Marchiori, L. L., Poli-Frederico, R. C. (2014). Association between interleukin-6 polymorphism in -174 G/C region and hearing loss in the elderly with a history of occupational noise exposure. Braz J Otorhinolaryngol, 80, 373-8.
Miranda-Vilela, A. L., Ribeiro, I. F., Grisolia, C. K. (2016). Association between inter-leukin 6 -174 G/C promoter gene polymorphism and runners’ responses to the dietary ingestion of antioxidant supplementation based on pequi (Caryocar brasiliense Camb.) oil, a before-after study. Gen Mol Biol, 39 (4), 554-566.
Cordeiro, C. A., Moreira, P. R., Bessa, T. F., Costa, G. C., Dutra, W. O., Campos, W. R. et al. (2013). Interleukin-6 gene polymorphism (-174 G/C) is associated with toxoplasmic retinocho-roiditis. Acta Ophthalmol, 91, e311-4.
Buraczynska, M., Zukowski, P., Drop, B., Baranowicz-Gaszczyk, I., Ksiazek, A. (2016). Effect of G(-174)C polymorphism in interleukin-6 gene on cardiovascular disease in type 2 diabetes patients. Cytokine, 79, 7-11.
Tischendorf, J. J., Yagmur, E., Scholten, D., Vidacek, D., Koch, A., Winograd, R. et al. (2007). The interleukin-6 (IL6)-174 G/C promoter genotype is associated with the presence of septic shock and the ex vivo secretion of IL6. Int J Immunogenet, 34 (6), 413-8.
Wang, H. Y., Zhang, J. J., Zheng, X. Y., Liu, J. H., Li, Y. W. (2016). Association be-tween IL-6 Gene (-174 & -572 G/C) Polymorphisms and Endometrial Adenocarcinoma Risk. Pathol Oncol Res, 22, 825-9.
Singh, P. K., Chandra, G., Bogra, J., Gupta, R., Kumar, V., Jain, A. et al. (2015). Asso-ciation of interleukin-6 genetic polymorphisms with risk of OSCC in Indian population. Meta Gene, 4, 142-51.
Paul-Samojedny, M., Kowalczyk, M., Suchanek, R., Owczarek, A., Fila-Danilow, A., Szczygiel, A. et al. (2010). Functional polymorphism in the interleukin-6 and interleukin-10 genes in patients with paranoid schizophrenia – a case-control study. J Mol Neurosci, 42, 112-9.
Elsaid, A., Abdel-Aziz, A. F., Elmougy, R., Elwaseef, A. M. (2014). Association of polymorphisms G(-174)C in IL-6 gene and G(-1082)A in IL-10 gene with traditional cardiovascular risk factors in patients with coronary artery disease. Indian J Biochem Biophys, 51 (4), 282-92.
Endler, G., Marsik, C., Joukhadar, C., Marculescu R, Mayr F, Mannhalter C. et al. (2004). The interleukin-6 G(-174)C promoter polymorphism does not determine plasma interleukin-6 concentrations in experimental endotoxemia in humans. Clin Chem, 50 (1), 195-200.
Li, Y., Du, Z., Wang, X., Wang, G., Li, W. (2016). Association of IL-6 Promoter and Receptor Polymorphisms with Multiple Myeloma Risk, A Systematic Review and Meta-Analysis. Genet Test Mol Biomarkers, 20 (10), 587-596.
Klimkowicz-Mrowiec, A., Wołkow, P., Spisak, K., Maruszak, A., Styczyńska, M., Bar-cikowska, M. et al. (2010). Interleukin-6 gene (-174 C/G) and apolipoprotein E gene polymorphisms and the risk of Alzheimer disease in a Polish population. Neurol Neurochir Pol, 44 (6), 537-41.
Chang, Y. H., Huang, C. N., Shiau, M. Y. (2004). The C-174G promoter polymorphism of the interleukin-6 (IL-6) gene that affects insulin sensitivity in Caucasians is not involved in the pathogenesis of Taiwanese type 2 diabetes mellitus. Eur Cytokine Netw, 15(2), 117-9.
Papaoikonomou, S., Tentolouris, N., Tousoulis, D., Papadodiannis, D., Miliou, A., Pa-pageorgiou, N. et al. (2013). The association of the 174G>C polymorphism of interleukin 6 gene with diabetic nephropathy in patients with type 2 diabetes mellitus. J Diabetes Complications, 27, 576-9.
Garibyan, L, Avashia, N. (2013). Research Techniques Made Simple, Polymerase Chain Reaction (PCR). J Invest Dermatol, 133 (3), e6.
Walsh, P. S., Metzger, D. A., Higuchi, R. (1991). Chelex 100 as a medium for extrac-tion of DNA for PCR-based typing from forensic material. BioTechniques, 10, 506-13.
Fernández-Real, J. M., Broch, M., Vendrell, J., Richart, C., Ricart, W. (2000). Interleu-kin-6 gene polymorphism and lipid abnormalities in healthy subjects. J Clin Endocrinol Metab, 85, 1334-9.
Gan, G.-G., Subramaniam, R., Lian, L.-H., Nadarajan, Vs. (2013). Ethnic variation in interleukin-6 –174 (G/C) polymorphism in the Malaysian population. Balkan J Med Genet, 16 (2), 53-58.
Litovkin, K. V., Domenyuk, V. P., Bubnov, V. V., Zaporozhan, V. N. (2007). Interleu-kin-6-174G/C polymorphism in breast cancer and uterine leiomyoma patients, a population-based case control study. Exp Oncol, 29 (4), 295-8.
Downloads
Published
Issue
Section
License
Copyright (c) 2023 National University of Pharmacy
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).