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

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Abstract

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 aa ApaI and ff FokI polymorphisms favours a higher bone mass and better bone structure (decreased bone mass loss) in the analysed group.

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Acknowledgment

The study was partly financed by Ministry of Science and Higher Education grant No. 40605031/1860. The study was funded by the TEAM programme “Polish Registry for Pediatric and Adolescent Diabetes—nationwide genetic screening for monogenic diabetes” financed by the activity 1.2 of the Operational Programme “Innovative Economy” European Regional Development Fund and coordinated by the Foundation for Polish Science. Wojciech Fendler received support from the Foundation for Development of Polish Pharmacy and Medicine and from the European Fund of Regional Development.

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Authors and Affiliations

  1. Department of Paediatric Propedeutics and Bone Metabolism Diseases, Medical University of Lodz, ul Sporna 36/50, 91-738, Łódź, Poland

    Elżbieta Jakubowska-Pietkiewicz & Danuta Chlebna-Sokół

  2. Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Łódź, Poland

    Wojciech Młynarski, Izabela Klich & Wojciech Fendler

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  1. Elżbieta Jakubowska-Pietkiewicz
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  2. Wojciech Młynarski
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  3. Izabela Klich
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  4. Wojciech Fendler
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  5. Danuta Chlebna-Sokół
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Correspondence to Elżbieta Jakubowska-Pietkiewicz.

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Jakubowska-Pietkiewicz, E., Młynarski, W., Klich, I. et al. Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients. Mol Biol Rep 39, 6243–6250 (2012). https://doi.org/10.1007/s11033-012-1444-z

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  • DOI: https://doi.org/10.1007/s11033-012-1444-z

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