Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients.
Nephrology (Carlton)
; 19(11): 714-20, 2014 Nov.
Article
em En
| MEDLINE
| ID: mdl-24995698
ABSTRACT
AIM:
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.CONCLUSION:
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Obstrução Ureteral
/
Polimorfismo de Nucleotídeo Único
/
Rim Displásico Multicístico
/
Receptor Tipo 2 de Angiotensina
/
Hidronefrose
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País como assunto:
America do sul
/
Brasil
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article