title: Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease.
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.
authors.affiliation: Urology and Nephrology Research Center (UNRC), Shahid Labbafinejad Medical Center, Shahid Beheshti University, M.C. (SBMU), Tehran, Islamic Republic of Iran.
authors.forename: Abbas
authors.initials: A
authors.lastname: Basiri
authors.forename: Nasser
authors.initials: N
authors.lastname: Shakhssalim
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Amir H
authors.initials: AH
authors.lastname: Kashi
authors.forename: Mohaddeseh
authors.initials: M
authors.lastname: Azadvari
authors.forename: Banafsheh
authors.initials: B
authors.lastname: Golestan
authors.forename: Esmaeel
authors.initials: E
authors.lastname: Mohammadi Pargoo
authors.forename: Hamid
authors.initials: H
authors.lastname: Pakmanesh
mesh_terms: D000328:Adult; D006801:Humans; D007669:Kidney Calculi / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016366:Open Reading Frames; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol