Original Article

Indian Journal of Clinical Biochemistry

, Volume 25, Issue 2, pp 119-126

First online:

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

  • Rama Devi MittalAffiliated withDepartment of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS)Department of Urology, SGPGIMS Email author 
  • , D. K. MishraAffiliated withDepartment of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS)
  • , P. SrivastavaAffiliated withDepartment of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS)
  • , P. ManchandaAffiliated withDepartment of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS)
  • , H. K. BidAffiliated withDepartment of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS)
  • , R. KapoorAffiliated withDepartment of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS)

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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 receptor Polymorphism Urolithiasis Vitamin D receptor