Geisilaine Soares dos Reis1, Ana Cristina Simões E Silva2, Izabella Silva Freitas1, Thiago Ramos Heilbuth1, Luiz Armando de Marco1, Eduardo Araújo Oliveira3, Débora Marques Miranda3. 1. Instituto Nacional de Ciências e Tecnologia - Medicina Molecular, Belo Horizonte, MG, Brazil. 2. Instituto Nacional de Ciências e Tecnologia - Medicina Molecular, Belo Horizonte, MG, Brazil; Unit of Pediatric Nephrology, Department of Pediatrics, Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil. Electronic address: acssilva@hotmail.com. 3. Instituto Nacional de Ciências e Tecnologia - Medicina Molecular, Belo Horizonte, MG, Brazil; Unit of Pediatric Nephrology, Department of Pediatrics, Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Abstract
OBJECTIVE: To determine the frequency of different phenotypes for congenital anomalies of the kidney and urinary tract (CAKUT) in a Brazilian sample, and to evaluate the association between the CAKUT phenotypes and the BMP4 gene. METHODS: In this study, 457 Brazilian individuals were analyzed in an attempt to establish the association between the BMP4 gene and the CAKUT diagnosis. A case-control sample was genotyped for three BMP4 gene polymorphisms. RESULTS: Association data was established with CAKUT sample as a whole and with the three most important CAKUT phenotypes: multicystic dysplastic kidney disease (MDK), ureteropelvic junction obstruction (UPJO) and vesicoureteral reflux (VUR). When the sample was segregated in these three phenotypes, associations between the BMP4 gene were observed with UPJO and with MDK. Conversely, VUR was not associated to the polymorphisms of the BMP4 gene. CONCLUSIONS: The present data suggest that Brazilian individuals with polymorphisms of the BMP4 gene have a higher risk to develop CAKUT, especially the malformations related to nephrogenesis and initial branching such as MDK and UPJO. Conversely, VUR appeared not to be related to BMP4 gene.
OBJECTIVE: To determine the frequency of different phenotypes for congenital anomalies of the kidney and urinary tract (CAKUT) in a Brazilian sample, and to evaluate the association between the CAKUT phenotypes and the BMP4 gene. METHODS: In this study, 457 Brazilian individuals were analyzed in an attempt to establish the association between the BMP4 gene and the CAKUT diagnosis. A case-control sample was genotyped for three BMP4 gene polymorphisms. RESULTS: Association data was established with CAKUT sample as a whole and with the three most important CAKUT phenotypes: multicystic dysplastic kidney disease (MDK), ureteropelvic junction obstruction (UPJO) and vesicoureteral reflux (VUR). When the sample was segregated in these three phenotypes, associations between the BMP4 gene were observed with UPJO and with MDK. Conversely, VUR was not associated to the polymorphisms of the BMP4 gene. CONCLUSIONS: The present data suggest that Brazilian individuals with polymorphisms of the BMP4 gene have a higher risk to develop CAKUT, especially the malformations related to nephrogenesis and initial branching such as MDK and UPJO. Conversely, VUR appeared not to be related to BMP4 gene.
Keywords:
Anomalias congênitas do rim e do trato urinário; Association study; BMP-4; BMP4; CAKUT; Congenital anomalies of the kidney and urinary tract; Estudo de associação
Authors: Nayia Nicolaou; Kirsten Y Renkema; Ernie M H F Bongers; Rachel H Giles; Nine V A M Knoers Journal: Nat Rev Nephrol Date: 2015-08-18 Impact factor: 28.314
Authors: Débora Marques de Miranda; Augusto César Soares Dos Santos Júnior; Geisilaine Soares Dos Reis; Izabella Silva Freitas; Thiago Guimarães Rosa Carvalho; Luiz Armando Cunha de Marco; Eduardo Araújo Oliveira; Ana Cristina Simões E Silva Journal: Mol Diagn Ther Date: 2014-08 Impact factor: 4.074