2007
DOI: 10.1111/j.1442-2042.2007.01554.x
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Associations between renal sodium‐citrate cotransporter (hNaDC‐1) gene polymorphism and urinary citrate excretion in recurrent renal calcium stone formers and normal controls

Abstract: Purpose: Urinary citrate is a potent inhibitor of renal stone formation. Its excretion is regulated by Na + /dicarboxylate cotransporter-1 (NaDC-1), which is expressed on the apical membrane of renal proximal tubules. Many patients with calcium urolithiasis exhibit hypocitraturia, however, the mechanisms are not perfectly understood. We examined whether or not the I550V polymorphism in human NaDC-1 gene (hNaDC-1) influenced urinary citrate excretion. Materials and methods: I550V polymorphism was investigated i… Show more

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Cited by 34 publications
(36 citation statements)
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“…This SNP has been associated with the risk of hypocitraturia in recurrent renal stone formers [13]. However, those results have not yet been reproduced in any other population.…”
Section: Introductionmentioning
confidence: 69%
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“…This SNP has been associated with the risk of hypocitraturia in recurrent renal stone formers [13]. However, those results have not yet been reproduced in any other population.…”
Section: Introductionmentioning
confidence: 69%
“…Implication of the SNP I550V-hNaDC-1 in the mechanism of stone formation might be due to the isoleucine-to-valine alteration at position 550 in hNaDC-1 is located in the last trans membrane domain and the C-terminal half, which contains amino acid residues that determine substrate recognition and cation affinity; therefore, altering the function for transferring citrate. It is also possible that the rate of transcription or stability, of hNaDC-1 is modified by the SNP [13]. It is worth to note that the intestinal absorption of citrate, is the main source of plasma citrate [18].…”
Section: Discussionmentioning
confidence: 99%
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