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

Yıl 2018, Cilt: 11 Sayı: 2, 89 - 94, 14.05.2018

Ayşe Feyda Nursal

https://doi.org/10.5505/ptd.2017.94557

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

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

İnterlökin 1 gen varyantları ve sendromik olmayan mikrotia riski

Öz

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

Kaynakça

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