title: ACE serum level and I/D gene polymorphism in children with obstructive uropathies and other congenital anomalies of the kidney and urinary tract.
abstract: OBJECTIVE
  The aim of this study was to investigate the association of an insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) gene with serum ACE level in relation to the type and severity of malformations from congenital anomalies of the kidney and urinary tract (CAKUT) spectrum.
  
  
  METHODS
  A group of 134 Bulgarian children with CAKUT divided into four subgroups according to the leading malformation and 109 controls were genotyped by classical polymerase chain reaction. The quantitative determination of serum ACE was performed by ELISA method.
  
  
  RESULTS
  A significant elevation of DD-genotype was observed in high-grade hydronephrosis compared to low-grade (43% vs. 9%). The carrying of DD-genotype was associated with higher risk for severe hydronephrosis with OR = 7.5 (95% CI: 1.242÷45.278; P = 0.028). Also, elevated serum ACE concentrations in patients with high-grade compared to low-grade hydronephrosis (237.4 ± 45 ng/mL vs 180.5 ± 64 ng/mL; P = 0.0065) were found. ACE level was significantly lower in patients with unilateral renal agenesis; hypo/dysplasia and multicystic dysplastic kidney (156.6 ± 54 ng/mL) than controls (200.6 ± 56.7 ng/mL; P = 0.005) and the remaining CAKUT subgroups.
  
  
  CONCLUSIONS
  The DD genotype of I/D ACE polymorphism encodes the highest serum ACE level may be an additional genetic risk factor contributing to the severe hydronephrosis in Bulgarian patients with obstructive uropathies in contrast to other investigated categories of CAKUT malformations.
authors.affiliation: Department of Pediatrics, Medical Faculty, Trakia University, Stara Zagora, Bulgaria.
authors.forename: Emilya Stambolova
authors.initials: ES
authors.lastname: Kostadinova
authors.affiliation: Department of Molecular Biology, Immunology and Medical Genetics, Medical Faculty, Trakia University, Stara Zagora, Bulgaria.
authors.forename: Lyuba Dineva
authors.initials: LD
authors.lastname: Miteva
authors.affiliation: Department of Molecular Biology, Immunology and Medical Genetics, Medical Faculty, Trakia University, Stara Zagora, Bulgaria.
authors.forename: Spaska Angelova
authors.initials: SA
authors.lastname: Stanilova
mesh_terms: D000293:Adolescent; D002031:Bulgaria; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D006869:Hydronephrosis / Q000097:blood / Q000201:enzymology / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D016015:Logistic Models; D008297:Male; D016017:Odds Ratio; D007703:Peptidyl-Dipeptidase A / Q000097:blood* / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D012307:Risk Factors; D014564:Urogenital Abnormalities / Q000097:blood / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D014718:Vesico-Ureteral Reflux / Q000097:blood / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A
keywords: Alu insertion; hypo/dysplasia; congenital anomalies of the kidney and urinary tract; obstructive uropathies; renal agenesis; soluble angiotensin-converting enzyme