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Vitamin D receptor gene polymorphism and bone mineral density in 0-6-year-old Han children

Xiao-Dan Yu1, Xiao-Ming Shen, Ming-Bao Xue

  • 1Shanghai Institute of Pediatric Research, Xinhua Hospital, Medical School of Shanghai Jiaotong University, Shanghai, China.

Journal of Bone and Mineral Metabolism
|May 12, 2010
PubMed

Insights

Certain vitamin D receptor (VDR) gene variants, specifically BsmI (Bb) and FokI (ff), are linked to lower bone mineral density (BMD) in young Chinese children. Other VDR gene variants showed no significant association with BMD in this pediatric cohort.

Area of Science:

  • Genetics
  • Pediatrics
  • Bone Metabolism

Background:

  • Bone mineral density (BMD) is crucial for skeletal health in children.
  • Genetic factors, including vitamin D receptor (VDR) gene polymorphisms, may influence BMD.
  • Understanding these genetic associations is important for early identification of children at risk for bone health issues.

Purpose of the Study:

  • To investigate the association between four single nucleotide polymorphisms (SNPs) in the VDR gene and BMD in Chinese children aged 0-6 years.
  • To determine if VDR gene variants (ApaI, BsmI, TaqI, FokI) are related to BMD in this pediatric population.
  • To identify specific VDR genotypes associated with altered bone mineral density in early childhood.

Main Methods:

  • Recruited 204 Han Chinese children aged 0-6 years without metabolic bone disease.
  • Measured bone mineral density (BMD) of the middle tibia using an ultrasonic bone density instrument.
  • Determined VDR genotypes (ApaI, BsmI, TaqI, FokI) using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).

Main Results:

  • The VDR BsmI (Bb genotype) and FokI (ff genotype) variants were significantly associated with decreased BMD.
  • Children with the VDR BsmI Bb genotype had significantly lower BMD compared to bb carriers (P < 0.05).
  • Children with the VDR FokI ff genotype exhibited significantly lower BMD than Ff or FF carriers (P < 0.001).
  • VDR ApaI and TaqI polymorphisms showed no significant association with BMD in this cohort.
  • Predominant alleles were a, T, b, and F, with frequencies of 70.6%, 95.8%, 95.3%, and 57.6%, respectively.

Conclusions:

  • The VDR BsmI (Bb) and FokI (ff) genotypes are significantly associated with reduced bone mineral density in young Chinese Han children.
  • VDR ApaI and TaqI polymorphisms do not appear to influence BMD in this specific pediatric group.
  • These findings highlight the role of specific VDR gene variants in early childhood bone health and may inform targeted interventions.

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