Nephrol Dial Transplant (2001) 16: 2323-2327
© 2001 European Renal Association-European Dialysis and Transplant Association
Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease
1 Centre for Human Genetics, Edith Cowan University, Joondalup, Perth, WA, 2 University Department of Medicine, University of Western Australia, Medical Research Foundation Building, Perth, WA, 3 Institut für Humangenetik, WW-U, Münster, Germany, 4 Department of Nephrology, Jagiellonian University, Cracow, Poland, 5 Department of Radiology, 6 Department of Nephrology, 7 Department of Biochemistry, Royal Perth Hospital, Perth, WA, 8 Clinic of Nephrology and Hemodialysis, University Hospital, Pleven, Bulgaria, 9 Clinic of Nephrology and Hemodialysis, University Hospital, Plovdiv, Bulgaria, 10 Centre for Clinical Research in Neuropsychiatry, Graylands Hospital, Perth, WA and 11 Western Australian Institute for Medical Research, QEII Medical Centre, Nedlands, Perth, WA, Australia
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.
Keywords: autosomal dominant polycystic kidney disease; angiotensin converting enzyme; chronic renal failure; end-stage renal failure
Correspondence and offprint requests to: Mark Thomas, Department of Nephrology, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6001, Australia. Email: Mark.Thomas{at}health.wa.gov.au
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