Klotho gene polymorphism of rs3752472 is associated with the risk of urinary calculi in the population of Han nationality in Eastern China

Gene. 2013 Sep 10;526(2):494-7. doi: 10.1016/j.gene.2013.06.001. Epub 2013 Jun 10.


Background/aims: The incidence of urolithiasis has considerably increased throughout the world in the last two decades. Clinical researches have showed an association between oxidative stress and stone formation. Emerging evidence indicated a novel function for klotho protein in anti-oxidative stress. In this study, we aimed at investigating a possible relationship between klotho gene polymorphisms and the risk of calcium oxalate urolithiasis in the population of Han nationality in Eastern China.

Methods: Klotho gene polymorphisms rs3752472 in exon3, rs650439 in intron 4 and rs577912 in intron 1 were investigated in 426 patients with calcium oxalate stones compared with 282 age-matched healthy volunteers with no history of stone formation, using TaqMan SNP Genotyping Assays.

Results: Significant differences were found between rs3752472 and the risk of nephrolithiasis as CC genotype of rs3752472 klotho polymorphism had almost 2-fold increased stone risk compared with the heterozygote genotype CT and homozygous genotype TT(95% CI=1.013-2.255, OR=1.512,p=0.043).

Conclusion: Our results showed that the rs3752472 polymorphism of klotho gene is associated with the risk of calcium oxalate urolithiasis and may act as a risk factor during stone formation in our study population.

Keywords: CI; COD; COM; CaO(x); Cr; DNA; EDTA; ESRD; ESWL; FOXO; Insulin/IGF-1; Klotho; LDH; ORs; OS; Oxidative stress; PCNL; PCR; Polymorphism; ROS; SNP; SOD2; Urolithiasis; calcium oxalate; calcium oxalate dehydrate; calcium oxalate monohydrate; confidence interval; creatinine; deoxyribose nucleic acid; end-stage renal disease; ethylene diamine tetraacetic acid; extracorporeal shock wave lithotripsy; forkhead box; insulin/insulin-like growth factor-1; lactic dehydrogenase; mRNA; manganese-superoxide dismutase; messenger ribose nucleic acid; odds ratios; oxidative stress; pH; percutaneous nephrolithotomy; polymerase chain reaction; potential of hydrogen; reactive oxygen species; single nucleotide polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Asian Continental Ancestry Group / genetics*
  • Case-Control Studies
  • China
  • Female
  • Gene Frequency
  • Genotype
  • Glucuronidase / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Risk
  • Urinary Calculi / diagnosis
  • Urinary Calculi / genetics*
  • Young Adult


  • Glucuronidase
  • klotho protein