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

İnterlökin 1 gen varyantları ve sendromik olmayan mikrotia riski

GİRİŞ ve AMAÇ: Mikrotia küçük ve şekil bozukluğu olan kulak kepçesi ile görülen kongenital bir anomalidir. İnterlökin (IL) 1 enflamasyon ve kıkırdak harabiyeti için önemli bir düzenleyicidir. Bu çalışma Türk mikrotia hastalarında IL-1A (-889) ve IL-1B (-511) varyantlarının ilişkisini değerlendirmeyi amaçlamıştır. YÖNTEM ve GEREÇLER: Çalışmaya mikrotia tanılı 19 hasta ve 40 sağlıklı kontrol dahil edilmiştir. IL-1A (-889) ve IL-1B (-511) varyantları polimeraz zincir reaksiyonu (PZR)- sınırlayıcı parça uzunluk polimorfizm (RFLP) yöntemi ile incelenmiştir. İstatistik analiz için, SPSS 22.0 versiyonu kullanılmıştır. BULGULAR: IL-1A (-889) varyant genotip dağılımı hastalar ve kontrol grubu arasında istatistiksel olarak farklıydı. IL-1A -889 TT genotipi mikrotia hastalarında daha yaygınken, CC genotipi mikrotia hastalarında daha azdı, sırasıyla (p=0.008, p=0.008). Hasta ve kontrol grupları IL-1 (-889) CT+TT durumuna göre karşılaştırıldığında büyük fark saptandı (p=0.003). IL-1A (-889) C alleli mikrotia hastalarında azdı ve T alleli hastalarda çoktu (p=0.005). IL-1B (-511) CT varyant genotip ve allel dağılımı hastalar ve kontrol arasında herhangi istatistiksel fark göstermedi (p>0.05). TARTIŞMA ve SONUÇ: Bildiğimiz kadarıyla literatürde ilk olarak, IL-1A (-889) fonksiyonel varyantın Türk topluluğunda mikrotia ile önemli ilişkisi olduğunu gösterdik.Türkçe Kısa Başlık: Mikrotiada IL-1 gen varyantları

Anahtar Kelimeler:

Microtia, interlökin-1A, interlökin-1B, varyant

Interleukin-1 gene variants and the risk of non-syndromic microtia

INTRODUCTION: Microtia is a congenital anomaly, manifested by a small and disfigured auricle. Interleukin (IL) 1 is an important mediator of inflammation and cartilage destruction, This study is aimed at investigating association of IL-1A (-889) and IL-1B (-511) variants in a Turkish patient population with microtia. METHODS: Nineteen patients diagnosed with microtia and 40 healthy controls were enrolled to the study. The IL-1A (-889) and IL-1B (-511) variants were evaluated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. For statistical analysis, SPSS version 22.0 was used. RESULTS: The genotype distribution of the IL-1A (-889) variant was statistically different between the cases and the control group. IL-1A -889 CC genotype was lower in microtia cases while TT genotype was more prevalent in microtia cases, respectively (p=0.008, p=0.008). High difference was also observed when the patient group and the control group were compared according to IL-1 (-889) CT+TT (p=0.003). IL-1A (-889) C allele was lower in microtia patients and T allele was higher in patients (p=0.005). The allele frequency and genotype distribution of IL-1B (-511) CT variant did not show any statistically difference between patients and controls (p>0.05). DISCUSSION AND CONCLUSION: To our knowledge, for the first time in the literature we have demonstrated a significant association of the IL-1A (-889) functional variant with microtia in a Turkish cohort. İngilizce Kısa Başlık: IL-1 gene variants in microtia

Keywords:

Microtia, interleukin-1A, interleukin-1B, variant,

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