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

doi:10.1007/s12291-010-0023-0

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

Department of Surgery

Research output: Contribution to journal › Article › peer-review

23 Scopus citations

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.

Original language	English (US)
Pages (from-to)	119-126
Number of pages	8
Journal	Indian Journal of Clinical Biochemistry
Volume	25
Issue number	2
DOIs	https://doi.org/10.1007/s12291-010-0023-0
State	Published - Apr 2010

Keywords

Androgen receptor
Polymorphism
Urolithiasis
Vitamin D receptor

ASJC Scopus subject areas

Clinical Biochemistry

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10.1007/s12291-010-0023-0

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title = "Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis",

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.",

keywords = "Androgen receptor, Polymorphism, Urolithiasis, Vitamin D receptor",

author = "Mittal, {Rama Devi} and Mishra, {D. K.} and P. Srivastava and P. Manchanda and Bid, {H. K.} and R. Kapoor",

note = "Funding Information: We are thankful to Dr K Thangaraj, CCMB Hyderabad for providing facilities to perform the CAG experiment and Dr D.A. Levine, Sloan Kettering Cancer Center, New York for providing us CAG repeat standards. Partial funding was provided by the grant UPCST India.",

year = "2010",

month = apr,

doi = "10.1007/s12291-010-0023-0",

language = "English (US)",

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T1 - Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis

AU - Mittal, Rama Devi

AU - Mishra, D. K.

AU - Srivastava, P.

AU - Manchanda, P.

AU - Bid, H. K.

AU - Kapoor, R.

N1 - Funding Information: We are thankful to Dr K Thangaraj, CCMB Hyderabad for providing facilities to perform the CAG experiment and Dr D.A. Levine, Sloan Kettering Cancer Center, New York for providing us CAG repeat standards. Partial funding was provided by the grant UPCST India.

PY - 2010/4

Y1 - 2010/4

N2 - 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.

AB - 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.

KW - Androgen receptor

KW - Polymorphism

KW - Urolithiasis

KW - Vitamin D receptor

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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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