RGD Reference Report - Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies. - Rat Genome Database

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Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies.

Authors: Rigoli, L  Chimenz, R  Di Bella, C  Cavallaro, E  Caruso, R  Briuglia, S  Fede, C  Salpietro, CD 
Citation: Rigoli L, etal., Pediatr Res. 2004 Dec;56(6):988-93. Epub 2004 Oct 6.
RGD ID: 6903853
Pubmed: PMID:15470205   (View Abstract at PubMed)
DOI: DOI:10.1203/01.PDR.0000145252.89427.9E   (Journal Full-text)

Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT). We investigated the genotype distribution of these polymorphisms in Italian children with CAKUT. We also evaluated the association between the ACE insertion/deletion and the AT2R gene polymorphisms with the progression of renal damage in subgroups of CAKUT patients. We recruited 102 Italian children with CAKUT; 27 with vesicoureteral reflux; 12 with hypoplastic kidneys; 20 with multicystic dysplastic kidneys; 13 with ureteropelvic junctions stenosis/atresia; 18 with nonobstructed, nonrefluxing primary megaureters; and 12 with posterior urethral valves and compared them with 92 healthy control subjects. ACE and AT2R gene polymorphisms were analyzed by PCR. The identification of AT2R gene polymorphisms in intron 1 and in exon 3 was revealed by enzymatic digestion. ACE genotype distribution in children with CAKUT was no different from that of the control subjects, but the subgroup of patients with radiographic renal parenchymal abnormalities showed an increased occurrence of the D/D genotype. The frequency of the G allele of AT2R gene in children with CAKUT was increased in respect to that of the control subjects. By contrast, no significant difference in the frequency of the C and A alleles of the AT2R gene was found. Our findings indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in CAKUT patients. Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
AGTR2HumanUrogenital Abnormalities  IAGP DNA:transition:intron:-1332A>G (human)RGD 
Agtr2RatUrogenital Abnormalities  ISOAGTR2 (Homo sapiens)DNA:transition:intron:-1332A>G (human)RGD 
Agtr2MouseUrogenital Abnormalities  ISOAGTR2 (Homo sapiens)DNA:transition:intron:-1332A>G (human)RGD 
AGTR2Humanvesicoureteral reflux  IAGP DNA:transition:intron:-1332A>G (human)RGD 
Agtr2Ratvesicoureteral reflux  ISOAGTR2 (Homo sapiens)DNA:transition:intron:-1332A>G (human)RGD 
Agtr2Mousevesicoureteral reflux  ISOAGTR2 (Homo sapiens)DNA:transition:intron:-1332A>G (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Agtr2  (angiotensin II receptor, type 2)

Genes (Mus musculus)
Agtr2  (angiotensin II receptor, type 2)

Genes (Homo sapiens)
AGTR2  (angiotensin II receptor type 2)


Additional Information