Determination of the frequency of STAT3 polymorphisms (c.-1915C>G, c.1671C>T, c.-1-13666T>C, c.273+314A>G/T) in patients with kidney and urinary system congenital anomaly (CAKUT)

Congenital anomalies of the kidney and urinary tract (CAKUT), collectively refers to various structural malformations characterized by renal developmental disorders in the embryonic period and this malformation accounts for approximately 20-30% of all congenital malformations. CAKUT includes various structural malformations resulting from abnormalities in the morphogenesis of the urinary tract, including renal agenesis, renal dysplasia, renal hypoplasia, hydronephrosis, hydroureter, and vesicoureteral reflux. Currently, 36 genes found to be related to CAKUT phenotype. However, only 20% of CAKUT patients have mutations in these 36 genes. These data indicate the presence of high genetic heterogeneity in CAKUT. STAT3 is a member of the STAT protein family. The members of this protein family have roles in different cellular mechanisms such as cancer, inflammation, immune response, apoptosis, and early stage of embryonic development. It has been shown that STAT3 plays a role in kidney development and is associated with renal diseases. In this study, four different single nucleotide polymorphisms (SNP) localized in the STAT3 gene was investigated in patients diagnosed with CAKUT. rs1053004 is located in the 3' untranslated region (UTR) of the gene and rs4796793 is located in the 5 'UTR. rs744166 is located in the intronic region between exon 1 and exon 2, and rs3816769 is in the intronic region between exon 3 and exon 4. We used PCR-RFLP method for the analyses of rs744166 ve rs4796793, and melting curve analyses for rs1053004 and rs3816769. The selection of the patient and control groups was made in collaboration with Başkent University Faculty of Medicine Department of Pediatric Nephrology. In this study, we used previously isolated DNA samples (From KA17/341). Total of 145 CAKUT patients between 0-18 years old, and 128 control individuals enrolled in this study. As a result of statistical analysis, no polymorphism was found to be related to congenital anomalies of the kidney and urinary tract (CAKUT). Keywords: Congenital anomalies of the kidney and urinary tract, CAKUT, STAT3, rs1053004, rs744166, rs3816769, rs4796793