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Klotho gene polymorphism of rs3752472 is associated with the risk of urinary calculi in the population of Han nationality in Eastern China
Authors:Chen Xu  Ri-jin Song  Jie Yang  Bin Jiang  Xiao-lan Wang  Wei Wu  Wei Zhang
Affiliation:1. State Key Laboratory of Reproductive Medicine, Department of Urology, First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China;2. State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China;3. Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China
Abstract:

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