title: Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract.
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.
authors.affiliation: Instituto Nacional de Ciências e Tecnologia - Medicina Molecular, Belo Horizonte, MG, Brazil.
authors.forename: Geisilaine Soares dos
authors.initials: GS
authors.lastname: Reis
authors.affiliation: 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.
authors.forename: Ana Cristina
authors.initials: AC
authors.lastname: Simões E Silva
authors.affiliation: Instituto Nacional de Ciências e Tecnologia - Medicina Molecular, Belo Horizonte, MG, Brazil.
authors.forename: Izabella Silva
authors.initials: IS
authors.lastname: Freitas
authors.affiliation: Instituto Nacional de Ciências e Tecnologia - Medicina Molecular, Belo Horizonte, MG, Brazil.
authors.forename: Thiago Ramos
authors.initials: TR
authors.lastname: Heilbuth
authors.affiliation: Instituto Nacional de Ciências e Tecnologia - Medicina Molecular, Belo Horizonte, MG, Brazil.
authors.forename: Luiz Armando de
authors.initials: LA
authors.lastname: Marco
authors.affiliation: 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.
authors.forename: Eduardo Araújo
authors.initials: EA
authors.lastname: Oliveira
authors.affiliation: 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.
authors.forename: Débora Marques
authors.initials: DM
authors.lastname: Miranda
mesh_terms: D055415:Bone Morphogenetic Protein 4 / Q000235:genetics*; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000453:epidemiology / Q000235:genetics; D011446:Prospective Studies; D012494:Sampling Studies; D014517:Ureteral Obstruction / Q000453:epidemiology / Q000235:genetics; D014551:Urinary Tract / Q000002:abnormalities*; D014564:Urogenital Abnormalities; D014718:Vesico-Ureteral Reflux / Q000453:epidemiology / Q000235:genetics*
chemical_list: C525809:BMP4 protein, human; D055415:Bone Morphogenetic Protein 4; D005819:Genetic Markers
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