Vezikoüreteral reflüsü olan hastalarda SOX17 geninin yeni nesil dizi analizi ile araştırılması
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Dosyalar
Tarih
2022
Yazarlar
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Cilt Başlığı
Yayıncı
Düzce Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Giriş: Çalışmamızın amacı Vezikoüreteral Reflü (VUR) hastalarının ve sağlıklı kontrollerde SOX17 geninin yeni nesil dizi analizi ile taranarak bu gende tespit edilen varyasyonların VUR'deki klinik önemini belirlemektir. Gereç ve Yöntem: Düzce Üniversitesi Araştırma ve Uygulama Hastanesi Çocuk Sağlığı ve Hastalıkları Polikliniği'ne başvuran, VUR tanısıyla takip edilen 36 Hasta Grubu (27 kız, 9 erkek) ve 21 sagˆlıklı Kontrol Grubu (12 kız, 9 erkek) çalıs¸maya dahil edildi. Tam idrar tetkikinde lökosit, eritrosit, protein ve serum üre, kan üre azotu (BUN), kreatinin, sodyum, potasyum, klor düzeyleri rutin laboratuar metodlarıyla belirlendi. Hasta ve Kontrol Grubunun DNA'larından SOX17 geni Yeni Nesil Dizileme Yöntemi ile dizilendi. Bulgular: Yas¸, cinsiyet, boy ve vücut ağırlığı açısından VUR Hasta Grubu ile Kontrol Grubu arasında istatistiksel olarak anlamlı bir fark yoktu (sırasıyla; p=0,142, p=0,162, p=0,065, p=0,282). Sistolik ve diastolik ortalama kan basınçları arasında Hasta ve Kontrol Grubu arasında istatistiksel olarak anlamlı fark izlendi (sırasıyla; p=0,002, p=0,000). Çalışmamızdaki çocuklarda bakılmış olan parametrelerden idrar eritrosit, lökosit, protein, serum üre, klorür, BUN değerlerinde Hasta ve Kontrol Grubu arasında istatistiksel olarak anlamlı fark saptanmazken (sırasıyla; p=0,601, p=0,291, p=0,897, p=0,313, p=0,166, p=0,325), serum sodyum, potasyum ve kreatinin açısından Hasta ve Kontrol Grubunda istatistiksel olarak anlamlı fark saptandı (sırasıyla; p=0,001, p=0,000, p=0,004). Hasta ve Kontrol Grubunu SOX17 gen varyasyon dağılım durumuna göre kıyasladığımızda; Hasta Grubundan 1 olguda (%4,8) SOX17 NM_022454.3 geni Ekzon 2 Heterozigot c.775T>A p.Tyr259Asn rs267607083 varyasyonu, 1 olguda (%4,8) SOX 17 geni NM_022454.3 Ekzon 2 Heterozigot c.479C>T p.Ala160Val rs200011294 varyasyonu tespit edildi. Kontrol Grubunda 1 olguda (%2,8) SOX17 NM_022454.3 geni Ekzon 2 Heterozigot c.775T>A p.Tyr259Asn rs267607083 varyasyonu, 1 olguda (%2,8) SOX 17 geni NM_022454.3 Ekzon 2 Heterozigot c.479C>T p.Ala160Val rs200011294 varyasyonu tespit edildi. Hasta ve Kontrol Grubunda SOX17 geni varyasyonu açısından istatistiksel olarak anlamlı bir farklılık bulunmadı (p=0,329) iii . Sonuç: SOX17 genindeki c.479C>T p.Ala160Val varyasyonu literatürde vezikoüreteral reflülü hastalarda daha önce hiç tanımlanmamış olup, bu çalışmamızda ilk defa tespit edildi. SOX17 genindeki c.479C>T p.Ala160Val varyasyonu VUR etiyopatolojisindeki rolünün daha iyi açıklanabilmesi için, bu konuda daha geniş serileri içeren ilave çalışmaların yapılması önem arz etmektedir. Bu araştırma, prospektif bir çalışma olup VUR hastalarında SOX17 geninin Yeni Nesil Dizileme Yöntemi dizilendiği ilk çalışma olmasından dolayı bu bulguyu teyit edebilmek için çok sayıda olgunun oldugˆu çok merkezli çalıs¸malar gereklidir. Anahtar Kelimeler: Çocuklarda Vezikoüreteral Reflü, SOX17 Geni, Yeni Nesil Dizileme Yöntemi
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. Keywords: Vesicoureteral Reflux in Children, SOX17 Gene, Next Generation Sequencing Analysis
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. Keywords: Vesicoureteral Reflux in Children, SOX17 Gene, Next Generation Sequencing Analysis
Açıklama
Anahtar Kelimeler
Çocuklarda Vezikoüreteral Reflü, SOX17 Geni, Yeni Nesil Dizileme Yöntemi, Vesicoureteral Reflux in Children, SOX17 Gene, Next Generation Sequencing Analysis, Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases
