Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis

Abstract

Background: Calcium urolithiasis is in part genetically determined and associated with idiopathic hypercalciuria. Methods: We have used a candidate gene approach to determine whether the calcium-sensing receptor (CAR) gene is linked to idiopathic hypercalciuria and calcium urolithiasis in a cohort of French Canadian sibships with multiple affected members (64 sibships from 55 pedigrees yielding 359 affected sibling pairs with -1 stone episode). Results: Using nonparametric linkage analysis with various intragenic and flanking markers, we showed that the CaR gene could be excluded as a major gene for hypercalciuric stone formation. We excluded the CaR (lod score