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Cytokine gene variants/expressions and non-syndromic microtia – is there a link?

Year 2017, Volume: 7 Issue: 2, 62 - 67, 30.09.2017

Abstract

Objective: Although many genetic and environmental factors are investigated the etiopathogenesis of microtia, it still remains unclear. We investigated the relationship between the variants/expression of pro- and anti-inflammatory cytokines [interleukin (IL) 6, IL-10, tumor necrosis factor-alpha (TNF-α), transforming growth factor beta (TGF-β1), interferon gamma (IFN-γ)] and susceptibility non-syndromic microtia in a Turkish cohort.

Methods: Nineteen unrelated cases with microtia and 40 healthy controls were included in the present study. Cytokine variants were tested by polymerase chain reaction with sequence-specific primers (PCR-SSP) method.

Results: It was found that IL-6 (-174) GG genotype (high expression) was higher in microtia cases than the controls (p=0.010) while IL-6 (-174) GC (high expression) genotype was lower in patients (p=0.003). For IL-6 (-174), patients with GG genotype had a 5895-fold increased risk for microtia. IFN-γ (+874) variant AA genotype (low expression) was lower in microtia cases (p=0.009). IL-6 (-174) Gallele was more prevalent in patient group compared to controls while C allele was lower in patients than controls (p=0.003). IFN-γ (+874) variant T allele was more prevalent in cases while A allele was lowerin cases (p=0.017). Conclusion: We have demonstrated for the first time that the cytokine variants constitute risk factors for developing microtia. Our study suggests that the IFN-γ (+874) and IL-6 (-174) variants may be considered as a risk factor for microtia in a Turkish cohorts.




References

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Year 2017, Volume: 7 Issue: 2, 62 - 67, 30.09.2017

Abstract

References

  • 1. Alasti F, Van Camp G. Genetics of microtia and associated syn- dromes. J Med Genet 2009;46:361–9. 2. Calzolari F, Garani G, Sensi A, Martini A. Clinical and radiological evaluation in children with microtia. Br J Audiol 1999;33:303–12. 3. Yamauchi M, Yotsuyanagi T, Ikeda K, et al. Clinical and genet- ic analysis of microtia in Japan. J Plast Surg Hand Surg 2012;46: 330–4. 4. Robertson SA, Skinner RJ, Care AS. Essential role for IL-10 in resistance to lipopolysaccharide-induced preterm labor in mice. J Immunol 2006;177:4888–96. 5. Wu MY, Hill CS. TGF-beta superfamily signaling in embryon- ic development and homeostasis. Dev Cell 2009;16:329–43. 6. Ashkar AA, Di Santo JP, Croy BA. Interferon gamma con- tributes to initiation of uterine vascular modification, decidual integrity, and uterine natural killer cell maturation during nor- mal murine pregnancy. J Exp Med 2000;192:259–70. 7. Toder V, Fein A, Carp H, Torchinsky A. TNF-alpha in pregnan- cy loss and embryo maldevelopment: a mediator of detrimental stimuli or a protector of the fetoplacental unit? J Assist Reprod Genet 2003;20:73–81. 8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215. 9. Karaoglan I, Pehlivan S, Namiduru M, et al. TNF-alpha, TGF- beta, IL-10, IL-6 and IFN-gamma gene polymorphisms as risk factors for brucellosis. New Microbiol 2009; 32:173–8. 10. Schaid DJ, Batzler AJ, Jenkins GD, Hildebrandt MA. Exact tests of Hardy-Weinberg equilibrium and homogeneity of disequilib- rium across strata. Am J Hum Genet 2006;79:1071-80. 11. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Microtia: epidemiology and genetics. Am J Med Genet A 2012; 158A:124–39. 12. Ishimoto S, Ito K, Karino S, Takegoshi H, Kaga K, Yamasoba T. Hearing levels in patients with microtia: correlation with tempo- ral bone malformation. Laryngoscope 2007;117:461–5. 13. Artunduaga MA, Quintanilla-Dieck Mide L, Greenway S, et al. A classic twin study of external ear malformations, including microtia. N Engl J Med 2009;361:1216–8. 14. Schmid M, Schroder M, Langenbeck U. Familial microtia, meatal atresia, and conductive deafness in three siblings. Am J Med Genet 1985;22:327–32. 15. Okajima H, Takeichi Y, Umeda K, Baba S. Clinical analysis of 592 patients with microtia. Acta Otolaryngol Suppl 1996;525:18–24. 16. Dominguez F, Gadea B, Mercader A, Esteban FJ, Pellicer A, Simón C. Embryologic outcome and secretome profile of implant- ed blastocysts obtained after coculture in human endometrial epithelial cells versus the sequential system. Fertil Steril 2010;93: 774–82.e1. 17. Shen XH, Han YJ, Zhang DX, Cui XS, Kim NH. A link between the interleukin-6/Stat3 anti-apoptotic pathway and microRNA- 21 in preimplantation mouse embryos. Mol Reprod Dev 2009;76:854–62. 18. Miranda-Vilela AL, Ribeiro IF, Grisolia CK. Association between interleukin 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. Genet Mol Biol 2016;39:554–66. 19. Boehm U, Klamp T, Groot M, Howard JC. Cellular responses to interferon-gamma. Annu Rev Immunol 1997;15:749–95. 20. Al-Kholy W, Elsaid A, Sleem A, Fathy H, Elshazli R, Settin A. TNF- α - 308 G > A and IFN- γ + 874 A > T gene polymorphisms in Egyptian patients with lupus erythematosus. Meta Gene 2016;9:137–41. 21. Zollner U, Bischofs S, Lalic I, Zollner KP. LIF and TNF alpha concentrations in embryo culture media are predictive for embryo implantation in IVF. Asian Pacific Journal of Reproduction 2014; 1:277–82. 22. Chaouat G, Ledée-Bataille N, Dubanchet S, Zourbas S, Sandra O, Martal J. TH1/TH2 paradigm in pregnancy: paradigm lost? Cytokines in pregnancy/early abortion: reexamining the TH1/TH2 paradigm. Int Arch Allergy Immunol 2004;134:93– 119. 23. Mosmann TR, Coffman RL. Heterogeneity of cytokine secre- tion patterns and functions of helper T cells. Adv Immunol 1989;46:111–47. 24. Moudi B, Heidari Z, Mahmoudzadeh-Sagheb H, et al. Association between IL-10 gene promoter polymorphisms (-592 A/C, -819 T/C, -1082 A/G) and susceptibility to HBV infection in an Iranian population. Hepat Mon 2016;16:e32427. 25. Wu M, Chen G, Li YP. TGF-beta and BMP signaling in osteoblast, skeletal development, and bone formation, home- ostasis and disease. Bone Res 2016;4:16009. 26. Jones RL, Stoikos C, Findlay JK, Salamonsen LA. TGF-beta superfamily expression and actions in the endometrium and pla- centa. Reproduction 2006;132:217–32.
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Details

Journal Section Articles
Authors

Ayşe Feyda Nursal This is me

Mehmet Bekerecioğlu This is me

Sacide Pehlivan This is me

Tuğçe Sever This is me

Berker Büyükgüral This is me

Publication Date September 30, 2017
Submission Date October 31, 2017
Published in Issue Year 2017 Volume: 7 Issue: 2

Cite

APA Nursal, A. F., Bekerecioğlu, M., Pehlivan, S., Sever, T., et al. (2017). Cytokine gene variants/expressions and non-syndromic microtia – is there a link?. ENT Updates, 7(2), 62-67.
AMA Nursal AF, Bekerecioğlu M, Pehlivan S, Sever T, Büyükgüral B. Cytokine gene variants/expressions and non-syndromic microtia – is there a link?. ENT Updates. September 2017;7(2):62-67.
Chicago Nursal, Ayşe Feyda, Mehmet Bekerecioğlu, Sacide Pehlivan, Tuğçe Sever, and Berker Büyükgüral. “Cytokine Gene variants/Expressions and Non-Syndromic Microtia – Is There a Link?”. ENT Updates 7, no. 2 (September 2017): 62-67.
EndNote Nursal AF, Bekerecioğlu M, Pehlivan S, Sever T, Büyükgüral B (September 1, 2017) Cytokine gene variants/expressions and non-syndromic microtia – is there a link?. ENT Updates 7 2 62–67.
IEEE A. F. Nursal, M. Bekerecioğlu, S. Pehlivan, T. Sever, and B. Büyükgüral, “Cytokine gene variants/expressions and non-syndromic microtia – is there a link?”, ENT Updates, vol. 7, no. 2, pp. 62–67, 2017.
ISNAD Nursal, Ayşe Feyda et al. “Cytokine Gene variants/Expressions and Non-Syndromic Microtia – Is There a Link?”. ENT Updates 7/2 (September 2017), 62-67.
JAMA Nursal AF, Bekerecioğlu M, Pehlivan S, Sever T, Büyükgüral B. Cytokine gene variants/expressions and non-syndromic microtia – is there a link?. ENT Updates. 2017;7:62–67.
MLA Nursal, Ayşe Feyda et al. “Cytokine Gene variants/Expressions and Non-Syndromic Microtia – Is There a Link?”. ENT Updates, vol. 7, no. 2, 2017, pp. 62-67.
Vancouver Nursal AF, Bekerecioğlu M, Pehlivan S, Sever T, Büyükgüral B. Cytokine gene variants/expressions and non-syndromic microtia – is there a link?. ENT Updates. 2017;7(2):62-7.