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Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease |
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| Authors: | Abbas Basiri Nasser Shakhssalim Massoud Houshmand Amir H Kashi Mohaddeseh Azadvari Banafsheh Golestan Esmaeel Mohammadi Pargoo Hamid Pakmanesh |
| Affiliation: | (1) Urology and Nephrology Research Center (UNRC), Shahid Labbafinejad Medical Center, Shahid Beheshti University, M.C. (SBMU), Tehran, Islamic Republic of Iran;(2) UNRC, Shahid Labbafinejad Medical Center, SBMU, Tehran, Islamic Republic of Iran;(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;(4) UNRC, SBMU, Tehran, Islamic Republic of Iran;(5) Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Science, UNRC, Tehran, Islamic Republic of Iran;(6) Department of Biology, Faculty of Sciences Islamic Azad University, Science and Research Campus, Special Medical Center, Tehran, Islamic Republic of Iran; |
| 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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