Sitokin geni polimorfizmleri ve Türk pediyatrik koklear implant hastalarındaki ekspresyonu

Sitokin geni polimorfizmleri ve Türk pediyatrik koklear implant hastalarındaki ekspresyonu

Objective:We assessed the association between the polymorphisms and expressions of three cytokine genes and clinical parameters in children who underwent cochlear implantation due to profound congenital sensorineural hearing loss.   Methods:We analyzed the IL-6/-174, IFN-γ/+874 and TNF-α/-308 genes in 64 cases with congenital sensorineural hearing loss and in 70 healthy controls. Cytokine genotyping/expression was performed using the PCR-SSP method. Results: No significant differences were detected between the patient group and the healthy controls with respect to the distributions and numbers of genotypes and alleles of TNF-or IL-6. However, the TT genotype, associated with high expression of IFN-γ, and the Tallele frequency were significantly more frequent in the patient group versus the controls (p=0.016 and 0.023, respectively). Conclusion: Our results suggest that high expression of the IFN-γ gene may be associated with susceptibility to the disease. Consequently, IFN-γ may be a useful marker of the etiopathogenesis.

___

  • 1. Vivero RJ, Fan K, Angeli S, Balkany TJ, Liu XZ. Cochlear implantation in common forms of genetic deafness. Int J Pediatr Otorhinolaryngol 2010;74:1107–11.
  • 2. Lalwani AK, Castelein CM. Cracking the auditory genetic code: nonsyndromic hereditary hearing impairment. Am J Otol 1999; 20:115–32.
  • 3. Pati S, Pinninti S, Novak Z, et al.; NIDCD CHIMES Study Investigators. Genotypic diversity and mixed infection in newborn disease and hearing loss in congenital cytomegalovirus infection. Pediatr Infect Dis J 2013;32:1050–4.
  • 4. Lindberg E, Andersson B, Eggertsen R, Nyström E, Magnusson Y. A polymorphism at position +874 in the IFN-γ gene is associated with susceptibility for dilated cardiomyopathy. J Clin Cell Immunol 2010;1:101.
  • 5. Alper CM, Winther B, Hendly JO, Doyle WJ. Cytokine polymorphisms predict the frequency of otitis media as a complication of rhinovirus and RSV infections in children. Eur Arch Otorhinolaryngol 2009;266:199–205.
  • 6. Online Mendelian Inheritance in Man. Interferon, Gamma; IFNG [Internet]. Baltimore, MD: Johns Hopkins University [cited 2013 July 25] Available from: http://omim.org/entry/147570.
  • 7. Gaur U, Aggarwal B. Regulation of proliferation, survival and apoptosis by members of the TNF superfamily. Biochem Pharmacol 2003;66:403–8.
  • 8. Vadlamani L, Iyengar S. Tumour necrosis factor α polymorphism in heart failure/cardiomyopathy. Congest Heart Fail 2004;10:289–92.
  • 9. Wilson AG, Symons JA, McDowel TL, McDevit HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci U S A 1997;94:3195–9.
  • 10. Fonseca JE, Santos MJ, Canhao H, Choy E. Interleukin-6 as a key player in systemic inflammation and joint destruction. Autoimmun Rev 2009;8:538–42.
  • 11. Fishman D, Faulds G, Jeffery R, et al. The effect of novel polymorphism in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic onset juvenile chronic arthritis. J Clin Invest 1998;102:1369–76.
  • 12. Schroder K, Hertzog PJ, Ravasi T, Hume DA. Interferongamma: an overview of signals, mechanisms and functions. J Leukoc Biol 2004;75:163–89.
  • 13. Pravica V, Asderakis A, Perry C, et al. In vitro production of IFN-γ correlates with CA repeat polymorphisms in the human IFN-γ gene. Eur J Immunogenet 1999;26:1–3.
  • 14. Col-Araz N, Pehlivan S, Baspinar O, Oguzkan Balci S, Severe T, Balat A. Role of cytokine gene (IFN-γ, TNF-α, TGF-β1, IL-6, and IL-10) polymorphisms in pathogenesis of acute rheumatic fever in Turkish children. Eur J Pediatr 2012;171:1103–8.
  • 15. Rossi C. Bruno de Finetti: the mathematician, the statistician, the economist, the forerunner. Stat Med 2001;20:3651-66.
  • 16. Ben Selma W, Harizi H, Bougmiza I, et al. Interferon gamma +874 T/A polymorphism is associated with susceptibility to active pulmonary tuberculosis development in Tunisian patients. DNA Cell Biol 2011;30:379–87.
  • 17. Chong WP, Ip WK, Tso GH, et al. The interferon gamma gene polymorphism +874 T/A is associated with severe acute respiratory syndrome. BMC Infect Dis 2006;4:82–9.
  • 18. Tangwattanachuleeporn M, Sodsai P, Avihingsanon Y, et al. Association of interferon gamma gene polymorphism (+874 T/A) with arthritis manifestation in SLE. Clin Rheumatol 2007: 26;1921–4.
  • 19. Whiteman SC, Spiteri MA. IFN-gamma regulation of ICAM-I receptors in bronchial epithelial cells: soluble ICAM-I release inhibits human rhinovirus infection. J Inflamm 2008;5:5–8.
  • 20. Doyle WJ, Casselbrant ML, Li-Korothy HS, et al. The IL-6 (- 174, C/C) genotype predicts greater rhinovirus illness. J Infect Dis 2010;101:199–206.
  • 21. Matkovic S, Vojvodic D, Baljosevic I. Comparison of cytokine levels in bilateral ear effusions in patients with otitis media secretoria. Otolarngol Head Neck Surg 2007;137:450–3.
  • 22. Aminpour S, Tinling SP, Brodie HA. Role of tumor necrosis factor- · in sensorineural hearing loss after bacterial meningitis. Otol Neurotol 2005;26:602–9.