Mutlu YÜKSEK, Günseli BOZDOĞAN, Aydan İKİNCİOĞULLARI, Caner AYTEKİN, Emel BABACAN, Figen DOĞU, Nejat AKAR, Yonca EĞİN

Astımlı çocuklarda TGF-β1-915G/C ve TNF-α-308G/A polimorfizmleri

“Transforming Growth Factor-beta1 (TGF-b1)” pro ve antiinflamatuvar bir sitokindir ve astımda hava yolu yeniden yapılanmasında önemli bir rol oynar. Tümör nekroz faktörü-alfa (TNF-a) astım patogenezinde yer alan proinflamatuvar bir sitokindir. Sitokinlerin üretimi genetik kontrol altındadır ve sitokin genlerinde allelik varyantlara neden olan bazı tek nükleotid polimorfizmleri (SNPs) yüksek veya düşük sitokin üretimine neden olur. Bazı çalışmalarda astımda TGF-b1-915G/C ve TNF-a-308G/A polimorfizmleri daha yaygın ve astım ile ilişkili bulunmuştur. Bu çalışmada astımlı çocuklarda TGF-b1-915G/C ve TNF-a-308G/A polimorfizmlerinin görülme sıklığı ve bu polimorfizmlerin astım gelişiminde rolü olup olmadığını göstermek amaçlandı. Kırk altı astımlı çocuk ve 67 sağlıklı kontrolde TGF-b1-915G/C ve TNF-a-308G/A polimorfizmleri polimeraz zincir reaksiyonu (PCR) yöntemiyle LightCycler cihazı kullanılarak araştırıldı. TGF-b1-915G/C ve TNF-a-308G/A polimorfizm sıklığı sırasıyla astımlı çocuklarda %15.2 ve %23.9 iken, kontrol grubunda %8.9 ve %23.8 oranında bulundu (p> 0.05). Astım gelişim riski TGF-b1-915G/C (OR: 0.54, %95 CI: 0.17-1.75) ve TNF-a-308G/A (OR: 0.99, %95 CI: 0.41-2.40) polimorfizmleri ile ilişkili bulunmadı. Bu sonuçlar, astımlı çocuklarda TGF-b1-915G/C ve TNF-a-308G/A polimorfizm sıklığının sağlıklılardan farklı olmadığını ve bu polimorfizmlerin astım gelişimi için risk oluşturmadığını düşündürmektedir.

TGF-β1-915G/C and TNF-α-308G/A polymorphisms in children with asthma

Division of Pediatric Molecular Pathology and Genetics, Department of Pediatric Health and Diseases, Faculty of Medicine, Ankara University, Ankara, Turkey. TGF-b1 is a pro and antiinflammatory cytokine and plays an important role in airway remodelling in asthma. TNF-a is a proinflammatory cytokine that involved in the pathogenesis of asthma. Cytokine production is under genetic control, and certain single nucleotide polymorphisms (SNPs), which lead to allelic variants of cytokine genes are associated with higher or lower cytokine production in vitro. In some studies TGF-b1-915G/C and TNF-a-308G/A polymorphisms are found to be more prevalent and associated with asthma. The aim of this study is to investigate the frequency of TGF-b1-915G/C and TNF-a-308G/A polymorphisms and to determine whether or not these polymorphisms are associated with the development of asthma in children. 46 asthmatic children and 67 healthy controls were investigated by LightCycler PCR analysis for TGF-b1-915G/C and TNF-a-308G/A polymorphisms. The frequency of TGF-b1-915G/C and TNF-a-308G/A polymorphisms in asthmatic children were 15.2% and 23.9% respectively while the corresponding figures were 8.9% and 23.8% in the control group (p> 0.05). The risk of asthma development was not associated for TGF-b1 915G/C (OR: 0.54, 95% CI: 0.17-1.75) and TNF-a-308G/A (OR: 0.99, 95% CI: 0.41-2.40) polymorphisms. These results indicated that, the frequency of TGF-b1 915G/C and TNF-a-308G/A polymorphisms did not show any difference in asthmatic children compared to healthy controls and these polymorphisms do not seem to influence suspectibilty to asthma

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