Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease.

Riccardo Magistroni, Paolo Manfredini, Luciana Furci, Giulia Ligabue, Carla Martino, Marco Leonelli, Chiara Scapoli, Alberto Albertazzi

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

BACKGROUND: The clinical variability in the rate of progression of autosomal dominant polycystic kidney disease (ADPKD) has been attributed to genetic heterogeneity, though environmental factors and modifying genes very likely play an important role as well. We examined the association between clinical outcome, defined by age at onset of end-stage renal disease (ESRD) in 46 ADPKD patients, and a polymorphism in the epidermal growth factor receptor (EGFR) gene, a candidate modifying gene. EGFR is a key element in renal tubular proliferation. METHODS: This study comprised 46 unrelated patients with ADPKD and ESRD, and 58 healthy controls. The patients had prevalently PKD 1 mutations. The EGFR microsatellite polymorphism was genotyped according to Gebhardt et al (11). RESULTS: The allele frequencies of the EGFR polymorphism were different in the ADPKD sample and the control population (G2=17.19; P=0.009). In particular, the frequencies of the 122 and 118bp length alleles had a different distribution (P=0.010 and P=0.047 respectively). Patients with the 122bp length polymorphism had ESRD at an earlier age,but this finding was not statistically significant. CONCLUSIONS: These findings suggest an association between the EGFR microsatellite polymorphism and ADPKD. However, it is difficult to establish which alleles are protective and which harmful. A larger, multicenter study may help clarify these results and is also required to replicate our preliminary finding of an association between ADPKD and the EGFR polymorphism.

Original languageEnglish
Pages (from-to)110-115
Number of pages6
JournalJournal of Nephrology
Volume16
Issue number1
Publication statusPublished - Jan 2003

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Autosomal Dominant Polycystic Kidney
Epidermal Growth Factor Receptor
Chronic Kidney Failure
Microsatellite Repeats
Alleles
erbB-1 Genes
Genetic Heterogeneity
Age of Onset
Gene Frequency
Genes
Multicenter Studies
Kidney
Mutation
Population

ASJC Scopus subject areas

  • Nephrology

Cite this

Magistroni, R., Manfredini, P., Furci, L., Ligabue, G., Martino, C., Leonelli, M., ... Albertazzi, A. (2003). Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease. Journal of Nephrology, 16(1), 110-115.

Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease. / Magistroni, Riccardo; Manfredini, Paolo; Furci, Luciana; Ligabue, Giulia; Martino, Carla; Leonelli, Marco; Scapoli, Chiara; Albertazzi, Alberto.

In: Journal of Nephrology, Vol. 16, No. 1, 01.2003, p. 110-115.

Research output: Contribution to journalArticle

Magistroni, R, Manfredini, P, Furci, L, Ligabue, G, Martino, C, Leonelli, M, Scapoli, C & Albertazzi, A 2003, 'Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease.', Journal of Nephrology, vol. 16, no. 1, pp. 110-115.
Magistroni R, Manfredini P, Furci L, Ligabue G, Martino C, Leonelli M et al. Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease. Journal of Nephrology. 2003 Jan;16(1):110-115.
Magistroni, Riccardo ; Manfredini, Paolo ; Furci, Luciana ; Ligabue, Giulia ; Martino, Carla ; Leonelli, Marco ; Scapoli, Chiara ; Albertazzi, Alberto. / Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease. In: Journal of Nephrology. 2003 ; Vol. 16, No. 1. pp. 110-115.
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