Urological Research

, Volume 34, Issue 1, pp 47–52

Vitamin D receptor gene polymorphisms in patients with urolithiasis

  • Sezgin Gunes
  • Cenk Yucel Bilen
  • Nurten Kara
  • Ramazan Asci
  • Hasan Bagci
  • Ali Faik Yilmaz
Original Paper

DOI: 10.1007/s00240-005-0033-1

Cite this article as:
Gunes, S., Bilen, C.Y., Kara, N. et al. Urol Res (2006) 34: 47. doi:10.1007/s00240-005-0033-1

Abstract

Urolithiasis is a multifactorial disease, the onset and severity of which is influenced by both genetic and environmental factors. This study represents an investigation of the role of vitamin D receptor (VDR) gene polymorphisms (ApaI, BsmI, and TaqI) and combined genotypes in urolithiasis in a Turkish population. We studied 110 patients with urinary stones and 150 control subjects. The polymorphic regions were amplified using polymerase chain reaction, followed by digestion with restriction enzymes BsmI, ApaI, and TaqI, and analyzed electrophoretically. Genotype and allele frequencies were calculated, and the association with urolithiasis, family history, and recurrence of stone was investigated. Our data provide no evidence for an association between urolithiasis and VDR ApaI, BsmI, and TaqI genotypes. We also analyzed the effects of VDR ApaI, BsmI, and TaqI genotypes in combination; the “GTT” VDR haplotype, constructed from three adjacent restriction fragment length polymorphisms was overrepresented among the urolithiasis patients. However, no significant differences between heterozygous carriers (OR 1.302; 95% CI 0.527–3.215) and homozygous carriers (OR 3.39; 95% CI 0.719–15.985) were observed in our study population. A significant association was found only between the ApaI polymorphism and family history (P=0.017; χ2=5.657). Our data indicate that the VDR ApaI, BsmI, and TaqI polymorphisms do not confer a significant risk for urolithiasis.

Keywords

VDR geneTaqIBsmIApaIUrolithiasisGenotype

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Sezgin Gunes
    • 1
  • Cenk Yucel Bilen
    • 2
  • Nurten Kara
    • 1
  • Ramazan Asci
    • 2
  • Hasan Bagci
    • 1
  • Ali Faik Yilmaz
    • 2
  1. 1.Department of Medical Biology and Genetics, School of MedicineOndokuzmayis UniversitySamsunTurkey
  2. 2.Department of Urology, School of MedicineOndokuzmayis UniversitySamsunTurkey