Polymorphisms of Cytokine Genes in Genital Endometriosis
- 4 Downloads
Links between polymorphisms in cytokine genes and the development of genital endometriosis (GE) in women of reproductive age, its clinical manifestations, stages of progression, and efficacy of combined treatment were analyzed. Polymorphic variants of cytokine genes were identified by analysis of restriction fragment length polymorphisms (RFLP). Carriership of not only individual cytokine gene polymorphisms, i.e., the C-511T polymorphism of the IL1B gene (T allele), the T-330G polymorphism of the IL2 gene (G allele), the C-590T polymorphism of the IL4 gene (T allele), the G-174C polymorphism of the IL6 gene (C allele), the C-592A polymorphism of the IL10 gene (A allele and CA and AA genotypes), the G-308A polymorphism of the TNFA gene (A allele and AA genotype), and the C-590T polymorphism of the TGFB (T allele and CT genotype) gene, but also their combination, i.e., IL2GG/IL4CC/IL10CC/TNFAGG, was found to predispose to the development of GE. Carriership of the TT genotype of the IL1B C-511T polymorphism was found to predispose to the development of pelvic pain in GE and GE stages III–IV. Infertility in GE and the efficacy of its hormonal therapy were associated with carriership not of individual cytokine gene polymorphisms but with their combinations – IL2TT/IL4CC/IL10CC/TNFAGG and IL1CT/IL4CC/IL6GG/ IL10CC/TGFBCC, respectively.
Keywords
external genital endometriosis cytokines allelic gene polymorphismPreview
Unable to display preview. Download preview PDF.
References
- 1.V. V. Avdoshina, V. V. Dortman, V. I. Konenkov, et al., “Prognosis of the predisposition of humans to develop visual hepatitis C using the cytokine gene polymorphisms G-308A of TBFA, T-330G of IL2, C-590T of IL4, C703T of IL5, and C-592A of IL-10,” Med. Immunologiya, 8, No. 5–6, 715–720 (2006).Google Scholar
- 2.T. A. Agarkova, K. S. Kublinsky, I. O. Naslednikova, et al., “Polymorphism of cytokine IL1B and IL6 genes in endometriosis-associated infertility,” Byul. Sib. Otdel Ros. Akad. Med. Nauk., 33, No. 6, 60–64 (2013).Google Scholar
- 3.L. A. Garaeva and S. D. Mayanskaya, “Polymorphism of the genes for transforming growth factor, lipoprotein lipase, fibrinogen, and glycoprotein 3 alpha in patients with coronary atherosclerosis of different severities,” Praktich. Med., 102, No. 2, 88–93 (2017).Google Scholar
- 4.A. I. Ishchenko and E. A. Kudrina, Endometriosis: Current Aspects, MIA, Moscow (2008).Google Scholar
- 5.Z. G. Kadagidze, “Cytokines,” Praktich. Onkol., 4, No. 3, 131–139 (2003).Google Scholar
- 6.S. A. Ketlinskii and A. S. Simbirtsev, Cytokines, Foliant, St. Petersburg (2008).Google Scholar
- 7.O. A. Koneva, “Genetic markers and the age of onset of genital endometriosis,” Nauchn. Ved. Belgorod. Gos. Univ. Ser. Med. Formats., 14, No. 10, 247–253 (2011).Google Scholar
- 8.V. I. Konenkov and M. V. Smol’nikova, “Structural bases and functional significance of allelic polymorphism of human cytokine genes and their receptors,” Med. Immunol., 5, No. 1–2, 11–28 (2003).Google Scholar
- 9.N. S. Men’shikova, “Functional polymorphism of the genes for immunosuppressor cytokines in external genital endometriosis,” Mat. Dit. Kuzbass., 52, No. 1, 24–26 (2013).Google Scholar
- 10.F. F. Rizvanova, “Genetic diagnosis: polymorphism of cytokine genes,” Praktich. Med., 45, 41–43 (2010).Google Scholar
- 11.A. S. Simbirtsev, “Interleukin-2 and the IL-2 receptor complex in the regulation of immunity,” Immunologiya, 6, 3–7 (1998).Google Scholar
- 12.A. S. Simbirtsev and A. Yu. Gromova, “Functional polymorphism of the genes for inflammation-regulating molecules,” Immunologiya, 1, 67–72 (2005).Google Scholar
- 13.A. S. Simbirtsev and A. Yu. Gromova, “Functional polymorphism of the genes for regulatory cytokines,” Tsitokin. Vospal., 4, No. 1, 3–12 (2005).Google Scholar
- 14.M. V. Smol’nikova, V. S. Kozhevnikov, and V. I. Konenkov, “Analysis of the assortment of alleles of the promoter regions of the TNFA, IL2, IL4 and IL-10 genes with parameters of the state of the immune system in HIV-infected patients,” Med. Immunol., 8, No. 5–6, 659–666 (2006).Google Scholar
- 15.N. G. Solodovnikova and D. A. Niauri, “The role of cytokines in the development of external genital endometriosis,” Vestn. St. Peterburg. Univ., 11, No. 2, 115–122 (2006).Google Scholar
- 16.E. A. Khovrina, A. S. Kirpikov, and I. V. Kuznetsova, “Add-back therapy in the treatment of endometriosis with gonadotropin releasing- hormone agonists,” Akusher. Ginekol., 4, 134–139 (2011).Google Scholar
- 17.A. V. Shevchenko, O. V. Golovanova, and V. I. Konenkov, “Characteristics of polymorphism in the promoter regions of the cytokine genes IL1, IL4, IL5, IL6, IL10 and TNFA in the European population of Western Siberia,” Immunologiya, 4, 176–181 (2010).Google Scholar
- 18.M. I. Yarmolinskaya, M. A. Tarasova, S. A. Sel’kov, et al., External Genital Endometriosis. Guidelines for Doctors, E. K. Ailamazyan (ed.), N-L. St. Petersburg (2010).Google Scholar
- 19.R. Abutorabi, A. Baradaran, F. Sadat Mostafavi, et al., “Evaluation of tumor necrosis factor alpha polymorphism frequencies in endometriosis,” Int. J. Fertil. Steril., 9, No. 3, 329–337 (2015).PubMedPubMedCentralGoogle Scholar
- 20.S. H. Ahn, S. P. Monsanto, C. Miller, et al., “Pathophysiology and immune dysfunction in endometriosis,” Biomed. Res. Int. (electronic resource) (2015), https://www.hindawi.com/journals/bmri/2015/795976.
- 21.M. A. Al-Tahhan, R. L. Etewa, and M. M. El-Behery, “Association between circulating interleukin-1 beta (IL-1β) levels and IL-1β C-511T polymorphism with cervical cancer risk in Egyptian women,” Mol. Cell. Biochem., 353, No. 1–2, 159–165 (2011).PubMedGoogle Scholar
- 22.Y. S. Antsiferova, N. Y. Sotnikova, L. V. Posiseeva, and A. L. Shor, “Changes in the T-helper cytokine profile and in lymphocyte activation at the systemic and local levels in women with endometriosis,” Fertil. Steril., 84, No. 6, 1705–1711 (2005).PubMedGoogle Scholar
- 23.M. Bhanoori, K. A. Babu, M. Deenadayal, et al., “The interleukin- 6174G/C promoter polymorphism is not associated with endometriosis in South Indian women,” J. Soc. Gynecol. Investig., 12, No. 5, 365–369 (2005).PubMedGoogle Scholar
- 24.L. Buggio, E. Somigliana, G. Barbara, et al., “Oral and depot progestin therapy for endometriosis: towards a personalized medicine,” Expert Opin. Pharmacother., 24, 1–13 (2017).Google Scholar
- 25.W. Fan, S. Li, Q. Chen, et al., “Association between interleukin-10 promoter polymorphisms and endometriosis: a meta-analysis,” Gene, 515, No. 1, 49–55 (2013).PubMedGoogle Scholar
- 26.S. K. Hall, D. G. Perregaux, C. A. Gabel, et al., “Correlation of polymorphic variation in the promoter region of the interleukin-1 beta gene with secretion of interleukin-1 beta protein,” Arthritis Rheum., 50, No. 6, 1976–1983 (2004).PubMedGoogle Scholar
- 27.T. Harada, T. Iwabe, and N. Terakawa, “Role of cytokines in endometriosis,” Fertil. Steril., 76, No. 1, 1–10 (2001).PubMedGoogle Scholar
- 28.P. He, X. M. Zhang, L. Deng, and J. Y. Ma, “Relationship between IL-10 promoter gene polymorphisms and the susceptibility to endometriosis,” Yi Chuan, 31, No. 5, 479–484 (2009).PubMedGoogle Scholar
- 29.Y. Y. Hsieh, C. C. Chang, F. J. Tsai, et al., “Polymorphisms for interleukin- 4 (IL-4)-590 promoter, IL-4 intron3, and tumor necrosis factor alpha-308 promoter: non-association with endometriosis,” J. Clin. Lab. Anal., 16, 121–126 (2002).PubMedPubMedCentralGoogle Scholar
- 30.Y. Y. Hsieh, C. C. Chang, F. J. Tsai, et al., “Polymorphism for transforming growth factor beta 1-509 (TGF-B1-509), association with endometriosis,” Biochem. Genet., 43, No. 5–6, 203 – 210 (2005).PubMedGoogle Scholar
- 31.T. Iwabe, T. Harada, and N. Terakawa, “Role of cytokines in endometriosis- associated infertility,” Gynec. Obstet. Invest, 53, No. 1, 19–25 (2002).PubMedGoogle Scholar
- 32.M. L. Janas, P. Groves, N. Kienzle, and A. Kelso, “IL-2 regulates perforin and granzyme gene expression in CD8+ T cells independently of its effects on survival and proliferation,” J. Immunol., 175, No. 12, 8003–8010 (2005).PubMedGoogle Scholar
- 33.S. H. Juo, R. Wu, C. S. Lin, et al., “A functional promoter polymorphism in interleukin-10 gene influences susceptibility to endometriosis,” Fertil. Steril., 92, No. 4, 1228–1233 (2009).PubMedGoogle Scholar
- 34.J. Li, Y. Chen, S. Wei, et al., “Tumor necrosis factor and interleukin-6 gene polymorphisms and endometriosis risk in Asians: a systematic review and meta-analysis,” Ann. Hum. Genet., 78, No. 2, 104–116 (2014).PubMedGoogle Scholar
- 35.M. Nisolle, M. L. Alvarez, M. Colombo, and J. M. Foidart, “Pathogenesis of endometriosis,” Gynecol. Obstet. Fertil., 35, 898–903 (2007).PubMedGoogle Scholar
- 36.S. Podgaec, J. A. Dias, Jr., C. Chapron, et al., “Th1 and Th2 immune responses related to pelvic endometriosis,” Rev. Assoc. Med. Bras., 56, No. 1, 92–98 (2010).PubMedGoogle Scholar
- 37.M. Riiskjaer, K. Nielsen, R. Steffensen, et al., “Association of interleukin-10 promoter polymorphism and endometriosis,” Am. J. Reprod. Immunol., 65, 13–19 (2011).PubMedGoogle Scholar
- 38.S. Senapati and K. Barnhart, “Managing endometriosis-associated infertility,” Clin. Obstet. Gynecol., 54, No. 4, 720–726 (2011).PubMedPubMedCentralGoogle Scholar
- 39.F. Wieser, G. Fabjani, C. Tempfer, et al., “Analysis of an interleukin-6 gene promoter polymorphism in women with endometriosis by pyrosequencing,” J. Soc. Gynecol. Investig., 10, 32–36 (2003).PubMedGoogle Scholar
- 40.F. Wieser, G. Fabjani, C. Tempfer, et al., “Tumor necrosis factor-alpha promotor polymorphisms and endometriosis,” J. Soc. Gynecol. Investig., 9, 313–318 (2002).PubMedGoogle Scholar
- 41.V. J. Young, S. F. Ahmad, W. C. Duncan, and A. W. Horne, “The role of TGF-β in the pathophysiology of peritoneal endometriosis,” Hum. Reprod. Update, 23, No. 5, 548–559 (2017).PubMedGoogle Scholar
- 42.X. Zhang, P. Hei, L. Deng, and J. Lin, “Interleukin-10 gene promoter polymorphisms and their protein production in peritoneal fluid in patients with endometriosis,” Mol. Hum. Reprod., 13, 135–140 (2007).PubMedGoogle Scholar
- 43.F. Zhang, Y. Yang, and Y. Wang, “Association between TGF-β1-509C/T polymorphism and endometriosis: a systematic review and meta-analysis,” Eur. J. Obstet. Gynecol. Reprod. Biol, 164, 121–126 (2012).PubMedGoogle Scholar