title: Estimation of the relationship between the polymorphisms of selected genes: ACE, AGTR1, TGFβ1 and GNB3 with the occurrence of primary vesicoureteral reflux.
abstract: OBJECTIVE
  Etiopathogenesis of VUR is composite and not fully understood. Many data indicate the importance of genetic predisposition. The aim of this study was to establish the relationship of selected polymorphisms: 14094 polymorphism of the ACE, polymorphism rs1800469 of TGFβ-1, rs5443 gene polymorphism of the GNB3 and receptor gene polymorphism rs5186 type 1 AGTR1 with the occurrence of the primary vesicoureteral reflux.
  
  
  METHODS
  The study included 190 children: 90 with the primary VUR confirmed with the voiding cystourethrogram and excluded secondary VUR and a control group of 100 children without a history of the diseases of the genitourinary tract.
  
  
  METHODS
  The study was planned in the scheme: "tested case versus control." Genomic DNA was isolated from the leukocytes of peripheral blood samples. The results were statistically analyzed in the Statistica 10 using χ2test and analysis of the variance Anova.
  
  
  RESULTS
  Any of the four studied polymorphisms showed no difference in the distribution of genotypes between patients with primary vesicoureteral reflux and the control group. In patients with VUR and TT genotype polymorphism rs5443 GNB3 gene, the glomerular filtration rate was significantly higher than in patients with genotype CC or CT.
  
  
  CONCLUSIONS
  (1) No relationship was found between the studied polymorphisms (14094 ACE gene, rs1800469 gene TGFβ1, GNB3 gene rs5443, rs5186 AGTR1 gene) and the occurrence of primary vesicoureteral reflux. (2) TT genotype polymorphism rs5443 GNB3 gene may be a protective factor for the improved renal function in patients with primary vesicoureteral reflux in patients with genotype CC or CT.
authors.affiliation: Department of Urology, School of Medicine with Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
authors.forename: Marcin
authors.initials: M
authors.lastname: Życzkowski
authors.affiliation: Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Żywiec
authors.affiliation: Department of Urology, School of Medicine with Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland. krznowakowski@gmail.com.
authors.forename: Krzysztof
authors.identifier: http://orcid.org/0000-0003-1453-5164
authors.initials: K
authors.lastname: Nowakowski
authors.affiliation: Department of Urology, School of Medicine with Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Paradysz
authors.affiliation: Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
authors.forename: Władyslaw
authors.initials: W
authors.lastname: Grzeszczak
authors.affiliation: Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
authors.forename: Janusz
authors.initials: J
authors.lastname: Gumprecht
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D005919:Glomerular Filtration Rate / Q000235:genetics; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D014718:Vesico-Ureteral Reflux / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: C544065:AGTR1 protein, human; C000595803:GNB3 protein, human; D044140:Receptor, Angiotensin, Type 1; C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A; D020962:Heterotrimeric GTP-Binding Proteins
keywords: ACE; AGTR1; GNB3; Genes polymorphism; Kidney function; Primary vesicoureteral reflux; TGFbeta1