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Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease

Maya B Lodish1, Spyridon A Mastroyannis, Ninet Sinaii

  • 1Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. lodishma@mail.nih.gov

Journal of Pediatric Endocrinology & Metabolism : JPEM
|May 11, 2012
PubMed

Insights

This study found no link between vitamin D receptor (VDR) gene variants (Taq1 and Apal) and bone mineral density (BMD) in adults with Cushing disease (CD). This suggests hypercortisolism

Area of Science:

  • Endocrinology
  • Genetics
  • Bone Metabolism

Background:

  • Cushing disease (CD) is associated with decreased bone mineral density (BMD).
  • Vitamin D receptor (VDR) gene allelic variants are implicated in bone health and osteopenia.
  • The influence of VDR gene variants on BMD in CD remains debated.

Purpose of the Study:

  • To investigate the association between VDR gene polymorphisms (Taq1 and Apal) and BMD in patients with Cushing disease.
  • To clarify the role of specific VDR genotypes in bone density changes related to endogenous hypercortisolism.

Main Methods:

  • Analysis of BMD in adult patients diagnosed with Cushing disease.
  • Genotyping for Taq1 and Apal allelotypes of the VDR gene.
  • Statistical assessment to determine correlations between VDR genotypes and BMD measurements.

Main Results:

  • No significant association was found between the Taq1 VDR allelotype and BMD in patients with CD.
  • No significant association was found between the Apal VDR allelotype and BMD in patients with CD.
  • The study did not identify a relationship between these VDR polymorphisms and bone density in the context of Cushing disease.

Conclusions:

  • The studied VDR gene polymorphisms (Taq1 and Apal) do not appear to influence bone mineral density in adults with Cushing disease.
  • The detrimental effects of endogenous hypercortisolism on bone in CD are likely independent of these specific VDR genotypes.
  • Further research may be needed to explore other genetic or environmental factors affecting BMD in Cushing disease.

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