Calcium-Sensing Receptor Genetic Polymorphisms and Risk of Developing Nephrolithiasis in a Chinese Population

Abstract

Objective: To evaluate the association between calcium-sensing receptor (CaSR) Arg990Gly (rs1042636, A > G), Ala986Ser (rs1801725, G > T) polymorphisms, and urolithiasis risk.

Methods: Polymorphisms mentioned above were genotyped in a hospital-based case-control study of 615 patients diagnosed with nephrolithiasis and 315 kidney stone-free controls in a Chinese population using the SNaPshot method.

Results: The results indicated a significantly increased risk associated with CaSR Arg990Gly GG genotypes (OR 1.64, 95% CI 1.08-2.50) compared with the AA genotype. The CaSR Arg990Gly G carriers (AG/GG) had an adjusted OR (95% CI) of 1.45 (1.04-2.03, p = 0.021) compared with the wild genotype in the dominant model. In the stratified analyses, the risk remained for the subgroup of patients with age >48, never smokers and patients with hypertension and calcium oxalate stones (OR 1.78, 95% CI 1.02-3.09; OR 1.54, 95% CI 1.03-2.30; OR 2.83, 95% CI 1.32-6.07; OR 1.60, 95% CI 1.12-2.28, respectively).

Conclusion: Our results provide evidences that the CaSR Arg990Gly polymorphism is associated with the risk of nephrolithiasis development in a Chinese population.

Keywords: CaSR; Gene polymorphism; Nephrolithiasis.