Original Article
Kidney International (2000) 58, 38–42; doi:10.1046/j.1523-1755.2000.00138.x
Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis
Martin Petrucci, Patrick Scott, Denis Ouimet, Marie-Lucie Trouvé, Yanick Proulx, Luc Valiquette, Gérald Guay and Alain Bonnardeaux
Center de Recherche Guy Bernier, Hôpital Maisonneuve-Rosemont, Montréal, Québec, Canada
Correspondence: Alain Bonnardeaux, M.D., Ph.D., Center de Recherche Guy Bernier, Hôpital Maisonneuve-Rosemont, 5415 boul l'Assomption, Montréal, Québec, Canada, H1T 2M4. E-mail: bonnarda@ere.umontreal.ca
Received 8 June 1999; Revised 28 December 1999; Accepted 17 January 2000.
Abstract
Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis.
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 <-2) at 
s values of 1.5, 1.68, and 2.6 for sib pairs concordant for at least one stone passage, at least two stone passages, and at least one stone passage and calciuria above the 75th percentile, respectively. Quantitative trait linkage analyses did not suggest that the CaR gene was linked to biochemical markers of idiopathic hypercalciuria.
Conclusions
This study shows that genetic variants of the CaR gene are not associated with idiopathic hypercalciuria and calcium nephrolithiasis in this population of French Canadians.
Keywords:
kidney stones, urolithiasis, sib-pair linkage analysis, chromosome 3, familial hypercalciuria
