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


CONCLUSIONS
There is no relationship between progression towards ESRD and the ACE I/D polymorphism in ADPKD patients.
van Dijk
M A
MA
Department of Nephrology and. Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Breuning
M H
MH
Peters
D J
DJ
Chang
P C
PC
D000328:Adult; D000368:Aged; D004251:DNA Transposable Elements; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D016891:Polycystic Kidney, Autosomal Dominant / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology*; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
D004251:DNA Transposable Elements; D007703:Peptidyl-Dipeptidase A