Study of rs17251221 single nucleotide polymorphism of calcium sensing receptor gene and its association with calcium nephrolithiasis in a cohort of Egyptian calcium nephrolithiasis patients.

Background: Calcium nephrolithiasis is the most common type of renal stones representing about 70-80% of all cases. Since calcium stones are a multifactorial disorder, both genetic and environmental factors predispose to disease occurrence. Previous studies have indicated that genetic polymorphisms of the calcium-sensing receptor (CASR) gene are highly associated with stone formation.CASR geners17251221 is an A/G transition substitution mutation which is located in an intron of the CASRgene.The aim of the present study was to investigate whether CASR gene polymorphism rs1725122 is associated with the development of calcium nephrolithiasis. Methods: DNA samples were collected from forty Egyptian calcium nephrolithiasis patients and forty age- and sex-matched healthy controlsfor detection of CASR gene polymorphism rs17251221 using5' Nuclease assay. Results: There was no statistically significant difference between the two studied groups as regards the genotypes or allele frequency, but a significant association between rs17251221 and stone multiplicity in calcium nephrolithiasis patients was detected. Conclusion: Although no association was detected between calcium sensing receptor gene rs17251221polymorphism and the development of calcium nephrolithiasis, the mutant G allele ofthe polymorphism might be considered a marker for stone multiplicity in Egyptian calcium nephrolithiasis patients.