Indian Journal of Clinical Biochemistry

, Volume 25, Issue 2, pp 119–126

Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis

  • Rama Devi Mittal
  • D. K. Mishra
  • P. Srivastava
  • P. Manchanda
  • H. K. Bid
  • R. Kapoor
Original Article

DOI: 10.1007/s12291-010-0023-0

Cite this article as:
Mittal, R.D., Mishra, D.K., Srivastava, P. et al. Indian J Clin Biochem (2010) 25: 119. doi:10.1007/s12291-010-0023-0

Abstract

Transcriptional activity of the vitamin D receptor (VDR) gene is regulated by androgen receptor (AR) gene and both are associated with renal stone formation. We examined gene polymorphisms of VDR (PCR-RFLP) and AR (GeneScan analysis) in 125 stone formers and 150 controls from north India. Genotype Ff of Fok-I and Tt of Taq-I demonstrated significantly higher risk (P<0.001, OR=3.559 and P=0.019, 1.830 respectively). Variant f allele exhibited 1.7-folds higher risk. Ff of Fok-I and Aa of Apa-I gene polymorphism showed higher risk in males only. Mean CAG repeat was significantly higher in hypercalciuric patients as compared to normocalciuric (mean=21.62 ± 3.384 vs. 20.11 ± 3.182; P=0.034). Combined effects 1.8-folds higher risk in patients with Tt genotype of Taq-I and short CAG repeat. Thus, association of FokI and TaqI VDR gene polymorphisms suggest VDR as an important genetic marker for urolithiasis. Further, patients with combination of Tt of Taq-I and short CAG repeat were at higher risk for stone formation.

Key Words

Androgen receptorPolymorphismUrolithiasisVitamin D receptor

Copyright information

© Association of Clinical Biochemists of India 2010

Authors and Affiliations

  • Rama Devi Mittal
    • 1
    • 2
  • D. K. Mishra
    • 1
  • P. Srivastava
    • 1
  • P. Manchanda
    • 1
  • H. K. Bid
    • 1
  • R. Kapoor
    • 1
  1. 1.Department of Urology and Renal TransplantationSanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS)LucknowIndia
  2. 2.Department of UrologySGPGIMSLucknowIndia