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...
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
Elsevier
2014-01-01
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| Σειρά: | Jornal de Pediatria |
| Διαθέσιμο Online: | http://www.sciencedirect.com/science/article/pii/S0021755713001745 |
| _version_ | 1828346780198109184 |
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| author | Geisilaine Soares dos Reis Ana Cristina Simões e Silva Izabella Silva Freitas Thiago Ramos Heilbuth Luiz Armando de Marco Eduardo Araújo Oliveira Débora Marques Miranda |
| author_facet | Geisilaine Soares dos Reis Ana Cristina Simões e Silva Izabella Silva Freitas Thiago Ramos Heilbuth Luiz Armando de Marco Eduardo Araújo Oliveira Débora Marques Miranda |
| author_sort | Geisilaine Soares dos Reis |
| collection | DOAJ |
| 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. Resumo: Objetivo: determinar a frequência de diferentes fenótipos de anomalias congênitas do rim e trato urinário (CAKUT) em uma amostra brasileira e avaliar a associação entre os CAKUT e o gene BMP-4. Métodos: neste estudo, analisamos 457 indivíduos brasileiros em uma tentativa de estabelecer a associação entre o gene BMP-4 e o diagnóstico de CAKUT. As amostras de caso e de controle foram genotipadas em busca de três polimorfismos do gene BMP-4. Resultados: os dados de associação foram estabelecidos com a amostra de CAKUT como um todo e com os três fenótipos de CAKUT mais importantes: rim displásico multicístico (RDM), obstrução da junção ureteropélvica (UPJO) e refluxo vesico-ureteral (VUR). Quando a amostra foi separada nesses três fenótipos, encontramos associações entre o gene BMP-4 com UPJO e com RDM. Por outro lado, o VUR não foi associado aos polimorfismos do gene BMP-4. Conclusões: esses dados sugerem que os indivíduos brasileiros com polimorfismos do gene BMP-4 apresentam maior risco de desenvolver CAKUT, principalmente as malformações relacionadas a nefrogênese e ramificação inicial, como RDM e UPJO. Por outro lado, o VUR parece não estar relacionado ao gene BMP-4. Keywords: Association study, BMP4, Congenital anomalies of the kidney and urinary tract, CAKUT, Palavras-chave: Estudo de associação, BMP-4, Anomalias congênitas do rim e do trato urinário, CAKUT |
| first_indexed | 2024-04-14T00:30:07Z |
| format | Article |
| id | doaj.art-4a2bde25c6ee45efb2cde1dbff3a368f |
| institution | Directory Open Access Journal |
| issn | 0021-7557 |
| language | English |
| last_indexed | 2024-04-14T00:30:07Z |
| publishDate | 2014-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Jornal de Pediatria |
| spelling | doaj.art-4a2bde25c6ee45efb2cde1dbff3a368f2022-12-22T02:22:33ZengElsevierJornal de Pediatria0021-75572014-01-019015864Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tractGeisilaine Soares dos Reis0Ana Cristina Simões e Silva1Izabella Silva Freitas2Thiago Ramos Heilbuth3Luiz Armando de Marco4Eduardo Araújo Oliveira5Débora Marques Miranda6Instituto Nacional de Ciências e Tecnologia – Medicina Molecular, Belo Horizonte, MG, BrazilInstituto 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; Corresponding author.Instituto Nacional de Ciências e Tecnologia – Medicina Molecular, Belo Horizonte, MG, BrazilInstituto Nacional de Ciências e Tecnologia – Medicina Molecular, Belo Horizonte, MG, BrazilInstituto Nacional de Ciências e Tecnologia – Medicina Molecular, Belo Horizonte, MG, BrazilInstituto 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, BrazilInstituto 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, BrazilObjective: 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. Resumo: Objetivo: determinar a frequência de diferentes fenótipos de anomalias congênitas do rim e trato urinário (CAKUT) em uma amostra brasileira e avaliar a associação entre os CAKUT e o gene BMP-4. Métodos: neste estudo, analisamos 457 indivíduos brasileiros em uma tentativa de estabelecer a associação entre o gene BMP-4 e o diagnóstico de CAKUT. As amostras de caso e de controle foram genotipadas em busca de três polimorfismos do gene BMP-4. Resultados: os dados de associação foram estabelecidos com a amostra de CAKUT como um todo e com os três fenótipos de CAKUT mais importantes: rim displásico multicístico (RDM), obstrução da junção ureteropélvica (UPJO) e refluxo vesico-ureteral (VUR). Quando a amostra foi separada nesses três fenótipos, encontramos associações entre o gene BMP-4 com UPJO e com RDM. Por outro lado, o VUR não foi associado aos polimorfismos do gene BMP-4. Conclusões: esses dados sugerem que os indivíduos brasileiros com polimorfismos do gene BMP-4 apresentam maior risco de desenvolver CAKUT, principalmente as malformações relacionadas a nefrogênese e ramificação inicial, como RDM e UPJO. Por outro lado, o VUR parece não estar relacionado ao gene BMP-4. Keywords: Association study, BMP4, Congenital anomalies of the kidney and urinary tract, CAKUT, Palavras-chave: Estudo de associação, BMP-4, Anomalias congênitas do rim e do trato urinário, CAKUThttp://www.sciencedirect.com/science/article/pii/S0021755713001745 |
| spellingShingle | Geisilaine Soares dos Reis Ana Cristina Simões e Silva Izabella Silva Freitas Thiago Ramos Heilbuth Luiz Armando de Marco Eduardo Araújo Oliveira Débora Marques Miranda Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract Jornal de Pediatria |
| title | 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_short | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S0021755713001745 |
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