MicroRNA Gene Polymorphisms in Congenital Anomalies of the Kidney and Urinary Tract

Year 2015, Volume: 40 Issue: 3, 439 - 452, 30.09.2015

Özlem Tezol Ali Delibaş , Özlem Ay Ümit Karakaş Bahar Taşdelen Mehmet Erdal

https://doi.org/10.17826/cutf.45252

Abstract

Purpose: Pathogenesis of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is unknown. A strong genetic contribution is emphasized. In this study we investigated the role of microRNA gene polymorphism in CAKUT. Material and Methods: 147 patients with CAKUT [(Ureteropelvic junction obstruction n: 39, vesicoureteral reflux (VUR) (n: 37), renal parenchymal malformations (n:43), anomalies of renal embryonic migration (n: 28)] and 51 healthy children were enrolled in the study. RNASEN, DGCR8, XPO5, RAN, DICER1, GEMIN3 gene polymorphisms were studied. Results: When the patient and control group were compared by polymorphisms no statistically significant difference was found. But GEMIN3 mutant allel frequency was significantly higher in VUR group than renal parenchymal malformation group. Conclusions: Mutant alleles of the GEMIN3 gene might be related to VUR pathogenesis within the context of the CAKUT spectrum. But studies with larger number of patients are required to delineate the association between CAKUT pathogenesis and microRNA gene polymorphisms.

Keywords

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Doğumsal Böbrek ve İdrar Yolları Anomalilerinde MicroRNA Gen Polimorfizmleri

Abstract

Amaç: Doğuştan böbrek ve üriner traktus anomalilerinin (CAKUT) patogenezi bilinmemektedir. Etiyolojide güçlü bir genetik yatkınlık vardır. Bu çalışmada CAKUT’da mikroRNA sentez yolağında görevli gen polimorfizmlerinin rolü araştırıldı. Materyal ve Metod: Mersin Üniversitesi Tıp Fakültesi Çocuk Nefrolojisi Polikliniği’nde izlenen CAKUT tanılı 147 hasta [Ureteropelvik bileşke darlığı: (n: 39), vezicoureteral reflü (VUR) (n: 37), renal parankimal malformasyonlar (n:43), böbreğin embriyonik migrasyon anomalileri (n: 28)] ve 51 sağlıklı çocuk çalışmaya dahil edildi. RNASEN, DGCR8, XPO5, RAN, DICER1, GEMIN3 gen polimorfizmleri Mersin Üniversitesi Tıp Fakültesi Tıbbi Biyoloji Anabilim Dalı’nda çalışıldı. Bulgular: Hasta ve kontrol grubu arasında gen polimorfizmleri karşılaştırıldığında istatistiksel olarak anlamlı bir fark bulunmadı. GEMIN3 geni mutant allel sıklığı VUR grubunda renal parankimal malformasyon grubuna oranla daha yüksek saptandı. Sonuç: CAKUT’da miRNA oluşum yolağında görevli gen polimorfizmlerinin patogenezi açıklayabilmesi için daha fazla sayıda hasta içeren çalışmalara ihtiyaç vardır. GEMIN3 geni mutant allelleri CAKUT spektrumu içinde VUR ile ilişkili olabilir

Keywords

Doğuştan Böbrek ve İdrar Yollarının Anomalileri, mikroRNA, GEMIN3

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