, Volume 47, Issue 2, pp 149–154 | Cite as

Polymorphisms of the VDR gene in patients with nephrolithiasis in a Han Chinese population

  • Zhenxing Yang
  • Qingqing Wang
  • Jiang F. Zhong
  • Longkun LiEmail author
Original Paper


An association study between VDR gene polymorphisms and nephrolithiasis was conducted in different populations, but it is not yet known whether the association exists in the Han Chinese population. Here, we genotyped three SNPs (rs731236, rs7975232 and rs10735810) in the promoter region of the VDR gene by iMLDR genotyping assays in a large case–control cohort. The results demonstrated that there was no association found between the three SNPs (rs731236, rs7975232 and rs10735810) in the VDR gene and nephrolithiasis, whether in allele or genotype distribution. However, SNP rs10735810 was correlated with the level of serum calcium in control groups, but not in patient groups. In conclusion, considering the large sample size, we believe that the SNP rs10735810 allele A in the VDR gene promoter region may influence the level of serum calcium, but not influence the formation of nephrolithiasis in a Han Chinese population.


VDR gene Nephrolithiasis Genetics 



Current work was supported partly by the National Natural Science Foundation of China (81470989 and 81600588), and partly by the clinical research project key projects of Second Affiliated Hospital, Third Military Medical University (2015YLC06).

Compliance with ethical standards

Conflict of interest

The authors declare no competing financial interest.

Ethical approval

This study was conducted with the approval of the ethics committee of Third Military Medical University.


  1. 1.
    Zeng Q, He Y (2013) Age-specific prevalence of kidney stones in Chinese urban inhabitants[J]. Urolithiasis 41(1):91–93CrossRefGoogle Scholar
  2. 2.
    Stechman MJ, Loh NY, Thakker RV (2007) Genetics of hypercalciuric nephrolithiasis: renal stone disease[J]. Ann N Y Acad Sci 1116:461–484. CrossRefGoogle Scholar
  3. 3.
    Devuyst O, Pirson Y (2007) Genetics of hypercalciuric stone forming diseases[J]. Kidney Int 72(9):1065–1072. CrossRefGoogle Scholar
  4. 4.
    Halbritter J, Baum M, Hynes AM (2015) et al. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis[J]. J Am Soc Nephrol 26(3):543–551. CrossRefGoogle Scholar
  5. 5.
    Arcidiacono T, Mingione A, Macrina L et al (2014) Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies[J]. Am J Nephrol 40(6):499–506CrossRefGoogle Scholar
  6. 6.
    Evan AP, Worcester EM, Coe FL et al (2015) Mechanisms of human kidney stone formation[J]. Urolithiasis 43(1):19–32CrossRefGoogle Scholar
  7. 7.
    Frick KK, Asplin JR, Culbertson CD et al (2014) Persistence of 1, 25D-induced hypercalciuria in alendronate-treated genetic hypercalciuric stone-forming rats fed a low-calcium diet[J]. Am J Physiol Renal Physiol 306(9):F1081-F1087CrossRefGoogle Scholar
  8. 8.
    Jacobs TP, Kaufman M, Jones G et al (2014) A lifetime of hypercalcemia and hypercalciuria, finally explained[J]. J Clin Endocrinol Metab 99(3):708–712CrossRefGoogle Scholar
  9. 9.
    Dampf Stone A, Batie SF, Sabir MS et al (2015) Resveratrol potentiates vitamin D and nuclear receptor signaling[J]. J Cell Biochem 116(6):1130–1143CrossRefGoogle Scholar
  10. 10.
    Landry C, Ruppe M, Grubbs E (2011) Vitamin D receptors and parathyroid glands[J]. Endocrine Pract 17(Supplement 1):63–68CrossRefGoogle Scholar
  11. 11.
    Scott P, Ouimet D, Valiquette L et al (1999) Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation[J]. J Am Soc Nephrol 10(5):1007–1013Google Scholar
  12. 12.
    Guha M, Bankura B, Ghosh S et al (2015) Polymorphisms in CaSR and CLDN14 genes associated with increased risk of kidney stone disease in patients from the eastern part of India[J]. PLoS One 10(6):e0130790. CrossRefGoogle Scholar
  13. 13.
    Cakir OO, Yilmaz A, Demir E et al (2016) Association of the BsmI, ApaI, TaqI, Tru9I and FokI polymorphisms of the vitamin D receptor gene with nephrolithiasis in the Turkish Population[J]. Urol J 13(1):2509–2518Google Scholar
  14. 14.
    Rendina D, De Filippo G, Gianfrancesco F et al (2016) Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers[J]. J Nephrol. Google Scholar
  15. 15.
    Ozkaya O, Soylemezoglu O, Misirlioglu M et al (2003) Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children[J]. Eur Urol 44(1):150–154CrossRefGoogle Scholar
  16. 16.
    Subasi B, Gokce I, Delil K et al (2015) Vitamin D receptor gene polymorphisms in children with kidney stone disease[J]. Pediatr Nephrol 30(9):1705Google Scholar
  17. 17.
    Musonda P, Paddy Farrington C, Whitaker HJ (2006) Sample sizes for self-controlled case series studies[J]. Stat Med 25(15):2618–2631CrossRefGoogle Scholar
  18. 18.
    Purcell S, Neale B, Todd-Brown K et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses[J]. Am J Hum Genet 81(3):559–575CrossRefGoogle Scholar
  19. 19.
    Rendina D, Mossetti G, Viceconti R et al (2004) Association between vitamin D receptor gene polymorphisms and fasting idiopathic hypercalciuria in recurrent stone-forming patients[J]. Urology 64(4):833–838. CrossRefGoogle Scholar
  20. 20.
    Mossetti G, Rendina D, Viceconti R et al (2004) The relationship of 3′ vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis[J]. Nephrol Dial Transplant 19(9):2259–2265. CrossRefGoogle Scholar
  21. 21.
    Mittal RD, Mishra DK, Srivastava P et al (2010) Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis[J]. Indian J Clin Biochem 25(2):119–126CrossRefGoogle Scholar
  22. 22.
    Nishijima S, Sugaya K, Naito A et al (2002) Association of vitamin D receptor gene polymorphism with urolithiasis[J]. J Urol 167(5):2188–2191CrossRefGoogle Scholar
  23. 23.
    Jackman SV, Kibel AS, Ovuworie CA et al (1999) Familial calcium stone disease: TaqI polymorphism and the vitamin D receptor[J]. J Endourol 13(4):313–316. CrossRefGoogle Scholar
  24. 24.
    Vezzoli G, Soldati L, Proverbio MC et al (2002) Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones[J]. J Nephrol 15(2):158–164Google Scholar
  25. 25.
    Mossetti G, Vuotto P, Rendina D et al (2003) Association between vitamin D receptor gene polymorphisms and tubular citrate handling in calcium nephrolithiasis[J]. J Intern Med 253(2):194–200CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Zhenxing Yang
    • 1
  • Qingqing Wang
    • 1
  • Jiang F. Zhong
    • 2
  • Longkun Li
    • 1
    Email author
  1. 1.Department of Urology, Second Affiliated HospitalThird Military Medical UniversityChongqingPeople’s Republic of China
  2. 2.Department of Pediatrics, Ostrow School of Dentistry, School of MedicineUniversity of Southern CaliforniaLos AngelesUSA

Personalised recommendations