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Clinical Research

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

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https://doi.org/10.2399/jmu.2017002007
Feyda Nursal, A., Bekerecioğlu, M., Pehlivan, S., Sever, T., & Büyükgüral, B. (2017). Cytokine gene variants/expressions and non-syndromic microtia – is there a link?. ENT Updates, 7(2). https://doi.org/10.2399/jmu.2017002007
Volume 7 Issue 2 (2017)
Copyright (c) 2017 Ayfle Feyda Nursal, Mehmet Bekerecioğlu, Sacide Pehlivan, Tuğçe Sever, Berker Büyükgüral
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This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors

  • Ayfle Feyda Nursal
    Department of Medical Genetics, Faculty of Medicine, Hitit University, Çorum, Turkey
  • Mehmet Bekerecioğlu Department of Plastic, Reconstructive & Aesthetic Surgery, Faculty of Medicine, Kahramanmaraş Sütçü İmam University, Kahramanmaraş, Turkey
  • Sacide Pehlivan Department of Medical Biology, Faculty of Medicine, Istanbul University, Istanbul, Turkey
  • Tuğçe Sever Department of Medical Biology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
  • Berker Büyükgüral Private Clinic for Plastic, Reconstructive & Aesthetic Surgery, Istanbul, Turkey

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.

Keywords:

Non-syndromic microtia cytokine variant expression