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

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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.

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Authors and Affiliations

  1. Department of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Raebareli Road, Lucknow, 226014, Uttar Pradesh, India

    Rama Devi Mittal, D. K. Mishra, P. Srivastava, P. Manchanda, H. K. Bid & R. Kapoor

  2. Department of Urology, SGPGIMS, Raebareli Road, Lucknow, 226014, India

    Rama Devi Mittal

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  1. Rama Devi Mittal
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  2. D. K. Mishra
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Correspondence to Rama Devi Mittal.

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Mittal, R.D., Mishra, D.K., Srivastava, P. et al. Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis. Indian J Clin Biochem 25, 119–126 (2010). https://doi.org/10.1007/s12291-010-0023-0

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  • DOI: https://doi.org/10.1007/s12291-010-0023-0

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