MicroRNA Gene Polymorphisms in Congenital Anomalies of the Kidney and Urinary Tract
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
Kaynakça
- Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J; EUROCAT Working Group. Paper 4: EUROCAT statistical monitoring: identification and investigation of ten years trend of congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol. 2011;91:31-43.
- Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, Innocenti ML, Somenzi D, Trivelli A, Caridi G,et al. Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int. 2009;76:528-33.
- Mansoor O, Chandar J, Rodriguez MM Abitbol CL, Seeherunvong W, Freundlich M, Zilleruelo G. Long term risk of chronic kidney disease in unilateral multicystic dysplastic kidney. Pediatr Nephrol. 2011;26:597-603.
- Yosypiv IV. Congenital anomalies of the kidney and urinary tract: a genetic disorder? Int J Nephrol. 2012;90:9083-93.
- Uetani N, Bouchard M. Plumbing in the embryo: developmental defects of the urinary tracts. Clin Genet. 2009;75:307-17.
- Rumballe B, Georgas K, Wilkinson L, Little M. Molecular anatomy of the kidney: what have we learned from gene expression and functional genomics? Pediatr Nephrol. 2010;25:1005-16.
- Ambros V. The functions of animal microRNAs. Nature. 2004;431:350-5.
- Bartel DP. MicroRNAs: genomics, biogenesis, mechanism and function. Cell. 2004;116:281-97. 9. Schedl A. Renal abnormalities and their developmental origin. Nat Rev Genet. 2007;8:791- 802.
- Woolf AS. A molecular and genetic view of human renal and urinary tract malformations. Kidney Int. 2000;58:500-12.
- Vainio S, Lin Y. Coordinating early kidney development: lessons from gene targeting. Nat Rev Genet. 2002;3:533-43.
