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. ？ngilizce K？sa Ba？l？k: IL-1 gene variants in microti