Title : Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies.

Pub. Date : 2014

PMID : 25504362






1 Functional Relationships(s)
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1 Polymorphisms of eleven genes have been associated with stones in genome-wide association studies and replicated candidate-gene association studies: VDR, SLC34A1, SLC34A4, CLDN14, and CaSR genes coding for proteins regulating tubular phosphate and calcium reabsorption; CaSR, MGP, OPN, PLAU, and UMOD genes coding for proteins preventing calcium salt precipitation; AQP1 gene coding for a water channel in the proximal tubule. Water vitamin D receptor Homo sapiens