Journal Article

Influence of <i>ACE</i> (I/D) and G460W polymorphism of α-adducin in autosomal dominant polycystic kidney disease

Alexandre Persu, Ouarda El-Khattabi, Thierry Messiaen, Yves Pirson, Dominique Chauveau and Olivier Devuyst

in Nephrology Dialysis Transplantation

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

Volume 18, issue 10, pages 2032-2038
Published in print October 2003 | ISSN: 0931-0509
Published online October 2003 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfg292
Influence of ACE (I/D) and G460W polymorphism of α-adducin in autosomal dominant polycystic kidney disease

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Background. The deleterious effect of the DD genotype of ACE in autosomal dominant polycystic kidney disease (ADPKD) remains controversial. Small sample size, population admixture and lack of consideration of parameters modulating the effects of ACE genotype, such as gender or α-adducin (ADD) genotype, might explain the discrepancy.

Methods. We investigated the effect of ACE (I/D) polymorphism on the age at end-stage renal disease (ESRD) in a homogeneous population of 191 ADPKD patients, according to gender and genotype for the G460W polymorphism of ADD. Cumulative renal survival was assessed in 276 patients from the same families.

Results. Though no effect was detected in the whole population, analysis of the male subset (n = 97) showed that patients harbouring the DD genotype of ACE had a 5-year lower mean age at ESRD than DI + II patients [47.8 ± 1.8 (n = 31) vs 52.8 ± 1.1 (n = 66), respectively] (P = 0.02). Furthermore, cumulative renal survival was lower in the corresponding pedigrees [47 ± 1 years, 95% confidence interval (CI) 45–49, vs 51 ± 1 years, 95% CI 48–54]. The G460W polymorphism of ADD had no effect on the age at ESRD and cumulative renal survival, either alone or in combination with the ACE (I/D) polymorphism.

Conclusions. In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age at ESRD, either alone or in combination with the G460W polymorphism of ADD. However, a deleterious effect of the DD genotype of ACE on renal disease progression was observed in ADPKD males.

Keywords: adducin; ADPKD; angiotensin-converting enzyme; modifier gene; polymorphisms

Journal Article.  4410 words.  Illustrated.

Subjects: Nephrology

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