AYŞE FEYDA NURSAL, MEHMET BEKERECİOĞLU, SACİDE PEHLİVAN, Tuğçe SEVER, Berker BÜYÜKGÜRAL

Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?

Sitokin gen varyantları/ekspresyonları ve non-sendromik mikrotia - Bir ilişki var mıdır?Amaç: Mikrotianın etyopatogenezinde birçok genetik ve çevreselfaktörler araştırılmasına rağmen hala belirsizlik vardır. Bu çalışmadabir Türk kohortunda pro- ve anti-enflamatuar sitokinlerin [interlökin(IL) 6, IL-10, tümör nekroz faktör alfa (TNF-?), transforme edici büyüme faktörü beta (TGF-?1), İnterferon gama (IFN-?)] varyant/ekspresyonu ve sendromik-olmayan mikrotiaya yatkınlık arasındaki ilişkiyi araştırdık.Yöntem:Çalışmaya akraba olmayan 19 mikrotiyalı olgu ve 40 sağlıklı gönüllü kontrol dahil edildi. Sitokin varyantları dizi spesifik primerpolimeraz zincir reaksiyonu (PCR-SSP) metodu kullanılarak analizedildi. Bulgular:IL-6 (-174) GC genotipi (yüksek ekspresyon) mikrotia vakalarında daha düşükken (p=0.003), IL-6 (-174) GG genotipi (yüksekekspresyon) mikrotia vakalarında kontrolden daha yüksek olarak bulundu (p=0.010). IL-6 (-174) için, GG genotipi taşıyan hastalar mikrotia için 5895 kat yüksek riske sahipti. IFN-? (+874) varyant AA genotip (düşük ekspresyon) mikrotia vakalarında düşüktü (p=0.009). IL6 (-174) C alleli hastalarda kontrollere göre düşükken, G alleli hastagrubunda kontrole göre daha yaygındı (p=0.003). IFN-? (+874) varyant A alleli hastalarda düşükken, T alleli hastalarda daha yaygındı(p=0.017). Sonuç:Burada mikrotia gelişimi için sitokin varyantlarının risk faktörü teşkil edeceğini ilk defa gösterdik. Sonuçlarımız IFN-? (+874) veIL-6 (-174) varyantlarının Türk toplumunda mikrotia gelişimi ile ilişkili olabileceğini öne sürmektedir.

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

Objective:Although many genetic and environmental factors areinvestigated the etiopathogenesis of microtia, it still remains unclear.We investigated the relationship between the variants/expression ofpro- and anti-inflammatory cytokines [interleukin (IL) 6, IL-10,tumor necrosis factor-alpha (TNF-?), transforming growth factorbeta (TGF-?1), interferon gamma (IFN-?)] and susceptibility nonsyndromic microtia in a Turkish cohort. Methods:Nineteen unrelated cases with microtia and 40 healthycontrols were included in the present study. Cytokine variants weretested 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) whileIL-6 (-174) GC (high expression) genotype was lower in patients(p=0.003). For IL-6 (-174), patients with GG genotype had a 5895fold increased risk for microtia. IFN-? (+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 whileC allele was lower in patients than controls (p=0.003). IFN-? (+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 thecytokine variants constitute risk factors for developing microtia. Ourstudy suggests that the IFN-? (+874) and IL-6 (-174) variants may beconsidered as a risk factor for microtia in a Turkish cohorts.

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