Document Detail

Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidney disease.
MedLine Citation:
PMID:  13679477     Owner:  NLM     Status:  MEDLINE    
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 alpha-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.
Alexandre Persu; Ouarda El-Khattabi; Thierry Messiaen; Yves Pirson; Dominique Chauveau; Olivier Devuyst
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association     Volume:  18     ISSN:  0931-0509     ISO Abbreviation:  Nephrol. Dial. Transplant.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-09-18     Completed Date:  2004-02-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8706402     Medline TA:  Nephrol Dial Transplant     Country:  England    
Other Details:
Languages:  eng     Pagination:  2032-8     Citation Subset:  IM    
Division of Nephrology, Université Catholique de Louvain Medical School, 1200 Brussels, Belgium.
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MeSH Terms
Age Distribution
Age of Onset
Calmodulin-Binding Proteins / genetics*
Cell Adhesion Molecules, Neuron-Glia / genetics*
Cohort Studies
Confidence Intervals
Disease Progression
France / epidemiology
Genetic Predisposition to Disease
Kidney Failure, Chronic / epidemiology*,  etiology
Middle Aged
Peptidyl-Dipeptidase A / genetics*
Polycystic Kidney, Autosomal Dominant / genetics*,  physiopathology
Polymorphism, Genetic*
Risk Factors
Severity of Illness Index
Sex Distribution
Survival Analysis
Reg. No./Substance:
0/Calmodulin-Binding Proteins; 0/Cell Adhesion Molecules, Neuron-Glia; 0/adducin; EC A

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