Journal Article

Angiotensin‐converting enzyme activity and the <i>ACE</i> Alu polymorphism in autosomal dominant polycystic kidney disease

Tina Schiavello, Valerie Burke, Nadia Bogdanova, Piotr Jasik, Steve Melsom, Neil Boudville, Ken Robertson, Dora Angelicheva, Bernd Dworniczak, Marta Lemmens, Juergen Horst, Vassil Todorov, Dimitar Dimitrakov, Wladyslaw Sulowicz, Andrzej Krasniak, Tomasz Stompor, Lawrence Beilin, Joachim Hallmayer, Luba Kalaydjieva and Mark Thomas

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 16, issue 12, pages 2323-2327
Published in print December 2001 | ISSN: 0931-0509
Published online December 2001 | e-ISSN: 1460-2385 | DOI:
Angiotensin‐converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease

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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

Journal Article.  2931 words.  Illustrated.

Subjects: Nephrology

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