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

Elżbieta Jakubowska-Pietkiewicz1, Wojciech Młynarski, Izabela Klich

  • 1Department of Paediatric Propedeutics and Bone Metabolism Diseases, Medical University of Lodz, ul Sporna 36/50, 91-738, Łódź, Poland. propedeutyka@usk4.umed.lodz.pl

Molecular Biology Reports
|March 17, 2012
PubMed

Insights

Vitamin D receptor (VDR) gene polymorphisms, specifically ApaI and FokI, are linked to better bone mineral density and structure in children. These genetic variations may help predict and potentially mitigate bone mass loss in pediatric populations.

Area of Science:

  • Genetics
  • Pediatrics
  • Orthopedics

Background:

  • Vitamin D receptor (VDR) gene polymorphisms are implicated in bone metabolism.
  • Understanding these genetic variations is crucial for assessing bone health in children.

Purpose of the Study:

  • To investigate the association between VDR gene polymorphisms (BsmI, FokI, ApaI, TaqI) and bone mineral density (BMD) in children.
  • To explore how these polymorphisms relate to bone structure and ultrasound parameters.

Main Methods:

  • Genotyping of 395 children (aged 6-18) for VDR gene polymorphic loci using PCR-RFLP.
  • Bone mineral density (BMD) and bone mineral content (BMC) measured by DXA.
  • Ultrasound parameters (BUA, SOS, Stiffness) evaluated and Z-scores calculated.

Main Results:

  • Children with the 'a' allele of ApaI polymorphism showed increased BMD and BMC in the spine.
  • Increased Stiffness and SOS ultrasound parameters were observed in children with the 'a' allele of ApaI.
  • FokI (f allele) carriers in group II exhibited significantly higher SOS values.

Conclusions:

  • The presence of 'aa' ApaI and 'ff' FokI polymorphisms in the VDR gene is associated with higher bone mass and improved bone structure in children.
  • These VDR gene variants may play a protective role against bone mass loss during childhood.

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