A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. (Articolo in rivista)

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  • A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Alternative label
  • Rendina D, Esposito T*, Mossetti G, De Filippo G, Gianfrancesco F, Perfetti A, Magliocca S, Formisano P, Prié D and Strazzullo P. (2012)
    A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis.
    in Journal of clinical endocrinology & metabolism (Online)
    (literal)
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  • Rendina D, Esposito T*, Mossetti G, De Filippo G, Gianfrancesco F, Perfetti A, Magliocca S, Formisano P, Prié D and Strazzullo P. (literal)
Pagina inizio
  • E840 (literal)
Pagina fine
  • E844 (literal)
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  • Esposito Teresa co-first author and co-corresponding author (literal)
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  • 97 (literal)
Rivista
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  • 5 (literal)
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  • ISI Web of Science (WOS) (literal)
  • Scopus (literal)
  • PubMed (literal)
  • Google Scholar (literal)
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  • Department of Clinical and Experimental Medicine (D.R., G.M., G.D.F., P.S.), Federico II University Medical School, 80131 Naples, Italy; Institute of Genetics and Biophysics \"Adriano Buzzati-Traverso\" (T.E., F.G., S.M.), Italian National Research Council, 80131 Naples, Italy; Service d'Endocrinologie Pédiatrique (G.D.F.), Hôpital Bicêtre, Université Paris-Sud, 94270 Le Kremlin-Bicêtre, France; Department of Cellular and Molecular Biology and Pathology (A.P., P.F), Federico II University, 80131 Naples, Italy; and Université René Descartes (D.P.), Institut National de la Santé et de la Recherche Médicale Unité 845, 75015 Paris, France (literal)
Titolo
  • A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. (literal)
Abstract
  • Background: A significant percentage of patients with calcium nephrolithiasis and normal parathyroid function have renal phosphate leak. This disorder is characterized by idiopathic hypophosphatemia and reduced renal phosphate threshold normalized for the glomerular filtration rate (TmPi/GFR). The majority of these patients harbor high or inappropriately normal circulating levels of fibroblast growth factor 23 (FGF23), a hormone regulating phosphate homeostasis. Aim: The aim of this study was to define the role of FGF23 allelic variants in the pathogenesis of hypophosphatemic nephrolithiasis. Subjects and Methods: We sequenced the regulative and coding regions of the FGF23 gene in 106 stone formers, 17 of which had renal phosphate leak, and in 87 healthy controls. We subsequently performed in vitro studies. Results: A C716T nonsynonymous change (T239M, rs7955866) in the FGF23 gene was detected in seven of the 17 stone formers with renal phosphate leak. The prevalence of the T allele and of the CT genotype in stone formers with renal phosphate leak was significantly higher compared to that observed in stone formers without renal phosphate leak and in controls (P < 0.03 in all cases). In the whole study population, FGF23716T subjects showed levels of serum phosphate and TmPi/GFR significantly lower compared to FGF23716C subjects. In vitro studies showed that the T239M change increases FGF23 secretion and that the FGF23239M variant induces a higher activation of the FGF receptor/ERK pathway compared to FGF23239T. Conclusion: Our results highlight a novel significant association between the C716T missense variation in the FGF23 gene and calcium nephrolithiasis with renal phosphate leak. (literal)
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