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

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

doi:10.1016/j.jped.2013.06.004

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Original articles • J. Pediatr. (Rio J.) 90 (01) • jan-feb 2014 • https://doi.org/10.1016/j.jped.2013.06.004 copy

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

Authorship SCIMAGO INSTITUTIONS RANKINGS

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.

Association study; BMP4; Congenital anomalies of the kidney and urinary tract; CAKUT

Allele	Marker	Phenotype	Case	Control	OR	95% Lo	95% Hi	_X ²	p-value^a	p 1.000^b
G	rs2071047	UPJO	0.60	0.45	1.00	1	1	4.98	0.03	0.16
A	rs2071047	UPJO	0.40	0.55	0.54	0.31	0.93	4.98	0.03	0.16
G	rs17563	UPJO	0.65	0.54	1.00	1	1	2.58	0.11
A	rs17563	UPJO	0.36	0.46	0.64	0.37	1.11	2.58	0.11
G	rs17563	VUR	0.56	0.54	1.00	1	1	0.06	0.79
A	rs17563	VUR	0.44	0.45	0.94	0.58	1.52	0.07	0.79
G	rs2071047	VUR	0.39	0.44	1.00	1	1	0.50	0.48
A	rs2071047	VUR	0.60	0.56	1.19	0.73	1.94	0.50	0.48
G	rs17563	Multicystic Kidney	0.44	0.46	1.00	1	1	0.09	0.76
A	rs17563	Multicystic Kidney	0.56	0.54	1.08	0.65	1.81	0.09	0.76
G	rs2071047	Multicystic Kidney	0.63	0.55	1.00	1	1	1.66	0.20
A	rs2071047	Multicystic Kidney	0.37	0.45	0.71	0.42	1.19	1.66	0.20
G	rs17563	All CAKUT phenotypes	0.36	0.46	1.00	1.00	1.00	9.10	0.002	0.54
A	rs17563	All CAKUT phenotypes	0.64	0.54	1.49	1.15	1.93	9.10	0.002	0.54
G	rs2071047	All CAKUT phenotypes	0.55	0.55	1.00	1.00	1.00	0.002	0.96
A	rs2071047	All CAKUT phenotypes	0.45	0.45	0.99	0.77	1.28	0.002	0.96
GA	rs17563	Multicystic Kidney	0.33	0.54	0.43	0.16	1.09	5.05	0.02	0.03
GG	rs2071047	UPJO	0.40	0.18	1.00	1	1	7.46	0.006	0.18
AA	rs17563, rs2071047	UPJO	0.22	0.37	0.46	0.23	0.93	4.62	0.03	0.33
GG	rs17563, rs2071047	All CAKUT phenotypes	0.31	0.36	1.00	1.00	1.00	3.88	0.05	0.82
GA	rs17563, rs2071047	All CAKUT phenotypes	0.05	0.09	0.67	0.35	1.30	5.98	0.01	0.33
AG	rs17563, rs2071047	All CAKUT phenotypes	0.24	0.18	1.54	1.04	2.28	5.72	0.02	0.02

Genotype	Marker	Phenotype	Case	Control	O-R	95% Lo	95% Hi	X²	p-value^a	p 1.000^b
GG	rs1753	Multicystic Kidney	0.27	0.18	1.00	1	1	1.31	0.25
GA	rs17563	Multicystic Kidney	0.33	0.54	0.43	0.16	1.09	5.05	0.02	0.03
AA	rs17563	Multicystic Kidney	0.39	0.27	1.01	0.39	2.53	2.18	0.14
GG	rs2071047	Multicystic Kidney	0.38	0.29	1.00	1.00	1.00	1.19	0.27
GA	rs2071047	Multicystic Kidney	0.50	0.52	0.73	0.34	1.59	0.04	0.85
AA	rs2071047	Multicystic Kidney	0.12	0.19	0.47	0.14	1.52	1.09	0.30
GG	rs17563	VUR	0.23	0.27	1.00	1	1	0.37	0.54
GA	rs17563	VUR	0.67	0.54	1.48	0.65	3.34	2.11	0.15
AA	rs17563	VUR	0.10	0.18	0.68	0.19	2.35	1.45	0.23
GG	rs2071047	VUR	0.13	0.18	1.00	1	1	0.71	0.39
GA	rs2071047	VUR	0.54	0.51	1.51	0.53	4.24	0.08	0.77
AA	rs2071047	VUR	0.33	0.30	1.57	0.52	4.72	0.14	0.71
GG	rs17563	UPJO	0.42	0.26	1.00	1	1	3.26	0.07
GA	rs17563	UPJO	0.45	0.54	0.52	0.23	1.176	0.97	0.32
AA	rs17563	UPJO	0.13	0.19	0.43	0.13	1.39	0.68	0.41
GG	rs2071047	UPJO	0.40	0.18	1.00	1	1	7.46	0.006	0.18
GA	rs2071047	UPJO	0.40	0.52	0.35	0.15	0.84	1.67	0.19
AA	rs2071047	UPJO	0.20	0.29	0.32	0.11	0.91	1.07	0.30
GG	rs17563, rs2071047	VUR	0.3665	0.3521	1	1	1	0.002543	0.9598
GA	rs17563, rs2071047	VUR	0.2232	0.1906	1.125	0.57	2.21	1.193	0.2747
AG	rs17563, rs2071047	VUR	0.01807	0.09021	0.1924	0.02	1.53	3.615	0.05727
AA	rs17563, rs2071047	VUR	0.3922	0.3671	1.026	0.59	1.78	0.01922	0.8897
GG	rs17563, rs2071047	UPJO	0.45	0.35	1.00	1	1	3.33	0.06
GA	rs17563, rs2071047	UPJO	0.18	0.19	0.76	0.32	1.83	0.13	0.72
AG	rs17563, rs2071047	UPJO	0.15	0.09	1.18	0.44	3.19	0.98	0.32
AA	rs17563, rs2071047	UPJO	0.22	0.37	0.46	0.23	0.93	4.62	0.03	0.33
GG	rs17563, rs2071047	Multicystic Kidney	0.42	0.37	1.00	1.00	1.00	0.46	0.50
GA	rs17563, rs2071047	Multicystic Kidney	0.01	0.09	0.17	0.02	1.36	3.55	0.06
AG	rs17563, rs2071047	Multicystic Kidney	0.22	0.18	1.02	0.50	2.07	0.85	0.36
AA	rs17563, rs2071047	Multicystic Kidney	0.35	0.36	0.84	0.47	1.52	0.15	0.69
GG	rs17563, rs2071047	All CAKUT phenotypes	0.31	0.36	1.00	1.00	1.00	3.88	0.05	0.82
GA	rs17563, rs2071047	All CAKUT phenotypes	0.05	0.09	0.67	0.35	1.30	5.98	0.01	0.33
AG	rs17563, rs2071047	All CAKUT phenotypes	0.24	0.18	1.54	1.04	2.28	5.72	0.02	0.02
AA	rs17563, rs2071047	All CAKUT phenotypes	0.39	0.36	13.0	0.96	1.76	1.31	0.25

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E-mail: jped@jped.com.br

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[1] * Corresponding author. E-mail: acssilva@hotmail.com, ana@medicina.ufmg.br (A.C. Simões e Silva).