Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers

enetic factors play a key role in the pathogenesis of hypocitraturia, a common risk factor for nephrolithiasis. The Na+-dicarboxylate cotransporter NaDC1, encoded by the sodium-dicarboxylate cotransporter (SLC13A2) gene, is a major determinant of urinary citrate excretion and its biological functions are regulated also by the vitamin D/Vitamin D receptor (VDR) biological system. The aim of this case-control study was to evaluate the possible epistatic interaction between VDRrs731236and SLC13A2rs11567842 allelic variants in the pathogenesis of hypocitraturia. … Conclusions These results point to an epistatic interaction between the VDR and the SLC13A2 alleles in the pathogenesis of idiopathic hypocitraturia in calcium SF.



AUTORE: Domenico Rendina · Gianpaolo De Filippo · Fernando Gianfrancesco · Riccardo Muscariello · Michele Schiano di Cola· Pasquale Strazzullo· Teresa Esposito.