title: Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients.
abstract: OBJECTIVE
  The angiotensin type 2 (AT2 ) receptor takes part in the process of ureteric bud during kidney development. Therefore, the gene encoding AT2 receptor, the AGTR2 gene located in the X chromosome, is a potential candidate for genetic association with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). This study aimed to investigate whether AGTR2 gene polymorphisms are associated with CAKUT in general or even with common phenotypes of CAKUT in a Brazilian sample of paediatric patients.
  
  
  METHODS
  We analyzed 290 paediatric patients with CAKUT and 262 healthy controls from the same geographic area. TaqMan single-nucleotide polymorphism (SNP) genotyping assays for AGTR2 gene at rs1403543, rs3736556, rs35474657, rs5193 and rs5194 were performed. The sample was in Hardy-Weinberg Equilibrium for all five SNPs.
  
  
  RESULTS
  The presence of CAKUT in general was not significantly associated with the SNPs included in this study. However, when patients were segregated according to major phenotypes, the diagnosis of Ureteropelvic Junction Obstruction (UPJO) was significantly associated with AGTR2 gene polymorphisms at rs3736556 and at rs5194. On the other hand, the diagnoses of vesicoureteral reflux and of multicystic dysplastic kidney were not associated with AGTR2 gene polymorphisms.
  
  
  CONCLUSIONS
  Our results support that the AGTR2 gene may contribute to the pathogenesis of UPJO and the genetic origin of CAKUT could vary according to phenotype expression.
authors.affiliation: INCT/MM - National Institute of Science and Technology in Molecular Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil; Department of Pediatrics, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Unity of Pediatric Nephrology, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
authors.forename: Debora M
authors.initials: DM
authors.lastname: Miranda
authors.forename: Augusto Cesar
authors.initials: AC
authors.lastname: Dos Santos
authors.forename: Helena C
authors.initials: HC
authors.lastname: Sarubi
authors.forename: Luciana
authors.initials: L
authors.lastname: Bastos-Rodrigues
authors.forename: Daniela Valadão
authors.initials: DV
authors.lastname: Rosa
authors.forename: Izabella S
authors.initials: IS
authors.lastname: Freitas
authors.forename: Luiz Armando
authors.initials: LA
authors.lastname: De Marco
authors.forename: Eduardo A
authors.initials: EA
authors.lastname: Oliveira
authors.forename: Ana Cristina
authors.initials: AC
authors.lastname: Simões e Silva
mesh_terms: D001938:Brazil; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital* / Q000235:genetics; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044139:Receptor, Angiotensin, Type 2 / Q000235:genetics*; D014517:Ureteral Obstruction / Q000235:genetics*
chemical_list: D044139:Receptor, Angiotensin, Type 2
keywords: angiotensin type 2 receptor gene; congenital anomalies of the kidney and urinary tract; renin angiotensin system; ureteropelvic junction obstruction