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

Purpose: 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. meterials and 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). 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.