Key result
Carrying the DD-genotype of the ACE I/D polymorphism was associated with a significantly higher risk for severe hydronephrosis (OR 7.5; 95% CI 1.242-45.278; P=0.028).
Why the study?
Does the ACE gene I/D polymorphism associate with the severity of congenital anomalies of the kidney and urinary tract in children?
Case-Control (n=243)
Does the ACE gene I/D polymorphism associate with the severity of congenital anomalies of the kidney and urinary tract in children?
The DD genotype of the ACE I/D polymorphism is associated with higher serum ACE levels and an increased risk of severe hydronephrosis in children with obstructive uropathies.
Answers are grounded in this paper and cite their sources.
May indicate DD-genotype risk for severe hydronephrosis in CAKUT; leaves open whether ACE I/D polymorphism aids severity stratification.
AIM: 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. CONCLUSION: 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.
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Kostadinova et al. (2016) conducted a case-control in Congenital anomalies of the kidney and urinary tract (CAKUT) (n=243). ACE I/D gene polymorphism (DD-genotype) vs. Non-DD genotypes / low-grade hydronephrosis was evaluated on Severe (high-grade) hydronephrosis (OR 7.5, 95% CI 1.242-45.278, p=0.028). Carrying the DD-genotype of the ACE I/D polymorphism was associated with a significantly higher risk for severe hydronephrosis (OR 7.5; 95% CI 1.242-45.278; P=0.028).
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