Investigation of sox17 gene by new generationsequence analysis in children with vesicoureteral reflux

Introduction: The aim of our study is to determine the clinical significance of the variations detected on the SOX17 gene in vesicoureteral reflux (VUR) by screening patients with VUR and healthy controls via the next generation sequencing analysis. Material-Method: Thirty-six patients (27 girls, 9 boys) and 21 healthy controls (12 girls, 9 boys) were included in this study. They were selected from patients who admitted to Düzce University Research and Training Hospital Pediatrics Outpatient Clinic and they also were followed up by the diagnosis of VUR. The complete urinalysis leukocytes, erythrocytes, protein and serum urea, blood urea nitrogen, creatinine, sodium, potassium, chlorine levels were determined by routine laboratory methods. The SOX17 gene on the DNA of the Patient and Control Groups was sequenced with the Next Generation Sequencing Method. Results: There was no statistically significant difference between the VUR patient group and the healthy control group in terms of age, gender, height and weight (respectively p=0.142, p=0.162, p=0.065, p=0.282). There was a statistically significant difference betweensystolic and diastolic mean blood pressures in the patient and control groups (respectively p=0.002, p=0.000). While there was no statistically significant difference between in the parameters of urine analysis erythrocyte, leukocytes, protein, seum urea, serum chloride, and blood urea nitrogen values in the patient and control groups in our study (respectively p=0.601, p=0.291, p=0.897, p=0.313, p=0.166, p=0.325), A statistically significant difference was found between the patient and control groups in terms of serum sodium, potassium and creatinine (respectively p=0.001, p=0.000, p=0.004). When we compared the patient and control groups according to the variation distribution status of the SOX17 gene; Heterozygous c.775T>A p.Tyr259Asn rs267607083 variation in exon 2 of SOX17 NM_022454.3 gene in 1 case (4.8%) from the patient group, heterozygous c.479C>T p.Ala160Val rs200011294 variation in exon 2 of SOX17 NM_022454.3 gene in 1 case (4.8%) from the patient group were detected. v Heterozygous c.775T>A p.Tyr259Asn rs267607083 variation in in exon 2 of SOX17 NM_022454.3 gene in 1 case (2.8%) from the control group and heterozygousc 479C >T p.Ala160Val rs200011294 variation in exon 2 of SOX17 NM_022454.3 gene in 1 case (2.8%) from the control group were detected. There was no statistically significant difference in terms of SOX17 gene variation in the patient and control groups (p=0.329). Conclusion: The c.479C>T p.Ala160Val variation in the SOX17 gene has never been described in the literature in patients with vesicoureteral reflux, it was detected for the first time in our study, and it is important to conduct additional studies with larger series in order to explain its role in the genetic etiology of VUR. Since this study is a prospective study and the first study to sequence the SOX17 gene in VUR patients by Next Generation Sequencing Analysis, multicenter studies with a large number of cases are required to confirm this finding. Key Words: Vesicoureteral Reflux in Children, SOX17 Gene, Next Generation Sequencing Analysis