Interleukin-1 gene variants and the risk of non-syndromic microtia
Öz
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
Anahtar Kelimeler
Kaynakça
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