Original Article Genetic variants in renal interstitial inflammation-related genes CSF-1 and CD44 are associated with susceptibility of nephrolithiasis

Previous studies showed that interstitial inflammation was more prevalent among CaOx stone formers (SF), indicating interstitial inflammation might be an important component part of pathologic processes in CaOx formation. However, contribution of genetic variants in interstitial inflammation-related CD44 and CSF-1 towards the risk of nephrolithiasis has not been reported. In this study, 582 patients and a group of 499 stone-free controls were enrolled in a case-control study. Four SNPs in CD44 and CSF-1 were selected to probe associations with nephroli- thiasis. Significant differences were observed in the distribution of the genotype and allele frequencies of rs13347 and rs2050462 between the nephrolithiasis patients and control subjects. Our study suggested that the CSF-1 rs2050462 C allele and CD44 rs13347 T allele were associated with susceptibility of nephrolithiasis. Through strati- fication analyses, we probed that the associations between CSF-1 rs2050462 and CD44 rs13347 with nephrolithia- sis risk were more prominent in some specific subgroups. Individuals carrying ≥2 risk alleles were more susceptible to nephrolithiasis. In conclusion, our study proved that the genetic variants in interstitial inflammation-related genes CD44 and CSF-1 played an important role in the susceptibility of nephrolithiasis.