The ACE insertion/deletion polymorphism has no influence on progression of renal function loss in autosomal dominant polycystic kidney disease

Nephrol Dial Transplant. 2000 Jun;15(6):836-9. doi: 10.1093/ndt/15.6.836.


Background: Autosomal dominant polycystic kidney disease (ADPKD) shows a variable clinical course that is not fully explained by the genetic heterogeneity of this disease. We looked for a possible genetic modifier, the ACE I/D polymorphism, and its influence on progression towards end-stage renal failure (ESRF).

Methods: Forty-nine ADPKD patients who reached ESRF <40 years, and 21 PKD1 patients who reached ESRF > 60 years or were not on dialysis at 60 years of age were recruited. Clinical data were provided by questionnaires. Blood was collected for the determination of the ACE insertion/deletion (I/D) polymorphism genotype. The ACE genotype was also determined in a general, control PKD1 group (n=59).

Results: Patients who reached ESRF <40 years had significantly more early onset hypertension than patients reaching ESRF >60 years (80% vs 21%; P<0.001). The ACE genotype distribution showed no differences between the groups of the rapid progressors (DD 20%, ID 56%, II 24%), the slow progressors (DD 29%, ID 52%, II 19%) and the general PKD1 control population (DD 31%, ID 47%, II 22%).

Conclusion: There is no relationship between progression towards ESRD and the ACE I/D polymorphism in ADPKD patients.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Aged
  • DNA Transposable Elements
  • Disease Progression
  • Female
  • Genotype
  • Humans
  • Kidney Failure, Chronic / genetics*
  • Kidney Failure, Chronic / physiopathology
  • Male
  • Middle Aged
  • Peptidyl-Dipeptidase A / genetics*
  • Polycystic Kidney, Autosomal Dominant / enzymology
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Polycystic Kidney, Autosomal Dominant / physiopathology*
  • Polymorphism, Genetic*
  • Sequence Deletion


  • DNA Transposable Elements
  • Peptidyl-Dipeptidase A