Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease

Nephrol Dial Transplant. 2001 Dec;16(12):2323-7. doi: 10.1093/ndt/16.12.2323.


Background: Previous studies concerning Alu I/D polymorphism in the ACE gene and ADPKD severity have used the Alu genotypes as a representative of the true biological variable, namely ACE activity. However, wide individual and ethnic differences in the proportion of variance in ACE activity explained by the I/D genotype may have confounded these studies. This investigation examines the association between ADPKD severity and ACE in terms of plasma enzyme activity and I/D genotypes in individuals from three different countries.

Methods: Blood samples were collected from 307 ADPKD patients (116 Australian, 124 Bulgarian and 67 Polish) for determination of ACE activity levels and I/D genotypes. Chronic renal failure (CRF) was present in 117 patients and end-stage renal failure (ESRF) in 68 patients.

Results: ACE activity was related to the I/D genotype, showing a dosage effect of the D allele (P=0.006). The proportion of variance due to the Alu polymorphism was 14%. No difference in ACE activity and I/D genotype distribution was found between patients with CRF versus normal renal function (P=0.494; P=0.576) or between those with ESRF versus those without ESRF (P=0.872; P=0.825). No effect of the I/D genotype on age at development and progression to renal failure (CRF; ESRF) was detected in the overall group, and in subgroups based on ethnic origin, linkage status and sex.

Conclusion: ACE is not likely to play a role as a determinant of ADPKD phenotype severity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aging / physiology
  • Child
  • DNA Transposable Elements
  • Female
  • Gene Deletion
  • Humans
  • Hypertension / complications
  • Kidney / physiopathology
  • Kidney Failure, Chronic / etiology
  • Male
  • Middle Aged
  • Peptidyl-Dipeptidase A / blood*
  • Peptidyl-Dipeptidase A / genetics*
  • Phenotype
  • Polycystic Kidney, Autosomal Dominant / complications
  • Polycystic Kidney, Autosomal Dominant / enzymology*
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Polycystic Kidney, Autosomal Dominant / physiopathology
  • Polymorphism, Genetic*
  • Severity of Illness Index


  • DNA Transposable Elements
  • Peptidyl-Dipeptidase A