Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract

Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract

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.

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Main Authors: Reis,Geisilaine Soares dos, Silva,Ana Cristina Simões e, Freitas,Izabella Silva, Heilbuth,Thiago Ramos, Marco,Luiz Armando de, Oliveira,Eduardo Araújo, Miranda,Débora Marques
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Pediatria 2014
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572014000100058
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spelling oai:scielo:S0021-755720140001000582015-08-28Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tractReis,Geisilaine Soares dosSilva,Ana Cristina Simões eFreitas,Izabella SilvaHeilbuth,Thiago RamosMarco,Luiz Armando deOliveira,Eduardo AraújoMiranda,Débora Marques Association study BMP4 Congenital anomalies of the kidney and urinary tract CAKUT 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. info:eu-repo/semantics/openAccessSociedade Brasileira de PediatriaJornal de Pediatria v.90 n.1 20142014-02-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572014000100058en10.1016/j.jped.2013.06.004
institution SCIELO
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country Brasil
countrycode BR
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access En linea
databasecode rev-scielo-br
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region America del Sur
libraryname SciELO
language English
format Digital
author Reis,Geisilaine Soares dos
Silva,Ana Cristina Simões e
Freitas,Izabella Silva
Heilbuth,Thiago Ramos
Marco,Luiz Armando de
Oliveira,Eduardo Araújo
Miranda,Débora Marques
spellingShingle Reis,Geisilaine Soares dos
Silva,Ana Cristina Simões e
Freitas,Izabella Silva
Heilbuth,Thiago Ramos
Marco,Luiz Armando de
Oliveira,Eduardo Araújo
Miranda,Débora Marques
Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract
author_facet Reis,Geisilaine Soares dos
Silva,Ana Cristina Simões e
Freitas,Izabella Silva
Heilbuth,Thiago Ramos
Marco,Luiz Armando de
Oliveira,Eduardo Araújo
Miranda,Débora Marques
author_sort Reis,Geisilaine Soares dos
title Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract
title_short Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract
title_full Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract
title_fullStr Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract
title_full_unstemmed Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract
title_sort study of the association between the bmp4 gene and congenital anomalies of the kidney and urinary tract
description 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.
publisher Sociedade Brasileira de Pediatria
publishDate 2014
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572014000100058
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