Nephrol Dial Transplant (2003) 18: 2032-2038
© 2003 European Renal Association-European Dialysis and Transplant Association
Original Article
Influence of ACE (I/D) and G460W polymorphism of 
-adducin in autosomal dominant polycystic kidney disease
1Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, 2Division of Nephrology, KUL Medical School, Leuven, Belgium and 3Department of Nephrology, Hôpital Necker, Paris, France
Correspondence and offprint requests to: Olivier Devuyst, Division of Nephrology, Université Catholique de Louvain Medical School, 10, Hippocrate avenue, 1200 Brussels, Belgium. Email: devuyst{at}nefr.ucl.ac.be
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 
-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
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  B. Tazon-Vega, M. Vilardell, L. Perez-Oller, E. Ars, P. Ruiz, O. Devuyst, X. Lens, P. Fernandez-Llama, J. Ballarin, and R. Torra Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1 Nephrol. Dial. Transplant., June 1, 2007; 22(6): 1567 - 1577. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. V. Pereira, A. C. F. Nunes, M. Rudnicki, R. Magistroni, A. Albertazzi, A. C. Pereira, and J. E. Krieger Influence of ACE I/D gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease: a meta-analysis Nephrol. Dial. Transplant., November 1, 2006; 21(11): 3155 - 3163. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Bianchi Genetic variations of tubular sodium reabsorption leading to "primary" hypertension: from gene polymorphism to clinical symptoms Am J Physiol Regulatory Integrative Comp Physiol, December 1, 2005; 289(6): R1536 - R1549. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Li, L. Thijs, T. Kuznetsova, L. Zagato, H. Struijker-Boudier, G. Bianchi, and J. A. Staessen Cardiovascular Risk in Relation to {alpha}-Adducin Gly460Trp Polymorphism and Systolic Pressure: A Prospective Population Study Hypertension, September 1, 2005; 46(3): 527 - 532. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Bianchi, P. Ferrari, and J. A. Staessen Adducin Polymorphism: Detection and Impact on Hypertension and Related Disorders Hypertension, March 1, 2005; 45(3): 331 - 340. [Abstract] [Full Text] [PDF]
|
|