Association of vitamin D receptor genotypes with calcium excretion in nephrolithiatic subjects in northern India

Urol Res. 2004 Jun;32(3):236-40. doi: 10.1007/s00240-004-0414-x. Epub 2004 Mar 18.

Abstract

Our objective was to investigate the association between the vitamin D receptor (VDR) allelic variants (Bsm I and Fok I) and nephrolithiasis in northern India. A total of 150 nephrolithiatic patients and 100 age and sex matched controls were enrolled for study. A 10 ml blood sample was obtained for biochemical analysis and DNA isolation. In addition, 24 h urine samples were obtained from each patient for the estimation of calcium and creatinine. PCR was performed for the Bsm I and Fok I VDR variants. The association between Bsm I and Fok I VDR polymorphism and nephrolithiasis was investigated after digestion with restriction enzymes (3 U). The product was analysed on 3% agarose gel for Bsm I and 15% polyacrylamide gel for Fok I allelic variants. We did not observe any significant differences in the prevalence of either the Bsm I or Fok I VDR genotypes between stone formers and controls. The B allele was found to be more prevalent in hypercalciuric patients compared to controls and nephrolithiatic subjects. The subjects with the bb genotype exhibited a higher calcium excretion than the BB genotype. Patients with the F allele were also found to excrete higher urinary calcium. VDR genotypes may be associated with increased calcium excretion in hypercalciuric nephrolithiatic subjects.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Calcium / urine*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / epidemiology
  • Genotype
  • Humans
  • India / epidemiology
  • Male
  • Middle Aged
  • Prevalence
  • Receptors, Calcitriol / genetics*
  • Urinary Calculi / epidemiology
  • Urinary Calculi / genetics*
  • Urinary Calculi / urine*

Substances

  • Receptors, Calcitriol
  • Calcium