Molecular Biology Reports

, Volume 39, Issue 5, pp 6243–6250

Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients

  • Elżbieta Jakubowska-Pietkiewicz
  • Wojciech Młynarski
  • Izabela Klich
  • Wojciech Fendler
  • Danuta Chlebna-Sokół


To determine the relationship between the polymorphism of vitamin D receptor gene and the bone mineral density in children. The study group consisted of 395 children aged 6–18 years. All patients underwent genotyping using the PCR-RFLP method within polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and Taq I (rs731236) of the VDR gene. The BMD (g/cm2, Z score) and BMC (g, Z score) by DXA method, as well as Z scores of the BUA, SOS and Stiffness ultrasound parameters were evaluated. Based on densitometry results, children were divided into 3 groups: I—Z score ± 1.0; II—Z score from −1.1 to −2.0; and III—Z score ≤ −2.1. A control group numbering 294 children was used for the purpose of allele frequency comparisons. The occurrence of studied polymorphism alleles in the control group did not significantly differ from the values expected according to the Hardy–Weinberg equilibrium (p values: 0.1224 for BsmI; 0.5958 for TaqI; 0.0817 for ApaI; and 0.8901 for FokI). Allele a ApaI carrier status in group III children was associated with an increased BMD (x = 0.8 vs 0.69, p = 0.0296) and BMC value (x = 28.76 vs 22.14, p = 0.0565) in spine projection results, Stiffness (x = −1.12 vs −1.91, p = 0.0347) and SOS (x = −1.43 vs −2.27, p = 0.0319) ultrasound parameters. In group II, significantly increased SOS values (−1.13 vs −1.73, p = 0.0378) were noted in f (FokI) carriers. The presence of aaApaI and ffFokI polymorphisms favours a higher bone mass and better bone structure (decreased bone mass loss) in the analysed group.


VDR polymorphism Bone mineral density (BMD) Children 


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Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Elżbieta Jakubowska-Pietkiewicz
    • 1
  • Wojciech Młynarski
    • 2
  • Izabela Klich
    • 2
  • Wojciech Fendler
    • 2
  • Danuta Chlebna-Sokół
    • 1
  1. 1.Department of Paediatric Propedeutics and Bone Metabolism DiseasesMedical University of LodzŁódźPoland
  2. 2.Department of Pediatrics, Oncology, Hematology and DiabetologyMedical University of LodzŁódźPoland

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