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

Jornal de Pediatria

Geisilaine Soares Dos Reis¹  Ana Cristina Simões E Silva¹  Izabella Silva Freitas¹  Thiago Ramos Heilbuth¹  Luiz Armando De Marco¹  Eduardo Araújo Oliveira¹  Débora Marques Miranda¹ 

关键词: Association study;    BMP4;    Congenital anomalies of the kidney and urinary tract;    CAKUT;    Estudo de associação;    BMP-4;    Anomalias congênitas do rim e do trato urinário;    CAKUT;   

DOI  :  10.1016/j.jped.2013.06.004

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY-NC-ND   
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