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Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease

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Abstract

The purpose of this study was to evaluate the impact of vitamin D receptor (VDR) gene polymorphisms on the status of active renal calcium stone formation. Male active renal calcium stone formers (ASF, final N = 106) with two episodes of stone relapse in the past 5 years were enrolled from December 2008 to April 2009. Controls (N = 109) were selected from age range- and gender-matched individuals who had no evidence or history of stone disease. Sequencing and single-strand conformational polymorphism were used to determine VDR polymorphisms in the patients and controls. Three polymorphisms were identified in the VDR gene: (1) start codon polymorphism (rs2228570T>C; p.M1T); (2) C/T polymorphism in the second intron (NT-029419.12: g.10416049C>T); (3) a silent polymorphism in exon 9 (rs731236T>C; p.I352I). Start codon polymorphism was the only one that was associated with the status of calcium stone formation (p < 0.05). We performed a complete coding genome analysis of VDR gene and observed that only start codon polymorphism was related to the status of active calcium stone formation.

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Acknowledgments

This study was supported by grants from the Iranian Special Medical Centre (Charity Foundation for Special Diseases) and the Urology and Nephrology Research Centre (UNRC).

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Authors and Affiliations

  1. Urology and Nephrology Research Center (UNRC), Shahid Labbafinejad Medical Center, Shahid Beheshti University, M.C. (SBMU), Tehran, Islamic Republic of Iran

    Abbas Basiri, Nasser Shakhssalim, Amir H. Kashi, Mohaddeseh Azadvari & Hamid Pakmanesh

  2. UNRC, Shahid Labbafinejad Medical Center, SBMU, Tehran, Islamic Republic of Iran

    Nasser Shakhssalim

  3. Houshmand Medical Molecular Genetic Lab., Genetic Diagnostic Department, National Institute for Genetic Engineering and Biotechnology, Special Medical Center(Charity Foundation for Special Diseases), UNRC, No#103, Boostan 9th St., Pasdaran Ave., 1666677951, Tehran, Islamic Republic of Iran

    Massoud Houshmand

  4. UNRC, SBMU, Tehran, Islamic Republic of Iran

    Amir H. Kashi, Mohaddeseh Azadvari & Hamid Pakmanesh

  5. Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Science, UNRC, Tehran, Islamic Republic of Iran

    Banafsheh Golestan

  6. Department of Biology, Faculty of Sciences Islamic Azad University, Science and Research Campus, Special Medical Center, Tehran, Islamic Republic of Iran

    Esmaeel Mohammadi Pargoo

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  1. Abbas Basiri
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  2. Nasser Shakhssalim
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  3. Massoud Houshmand
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  4. Amir H. Kashi
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  6. Banafsheh Golestan
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  7. Esmaeel Mohammadi Pargoo
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  8. Hamid Pakmanesh
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Correspondence to Massoud Houshmand.

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Basiri, A., Shakhssalim, N., Houshmand, M. et al. Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease. Urol Res 40, 35–40 (2012). https://doi.org/10.1007/s00240-011-0399-1

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  • DOI: https://doi.org/10.1007/s00240-011-0399-1

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