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The Role of Vitamin D Receptor Gene Polymorphisms in Thyroid-Associated Orbitopathy

Adam Maciejewski1, Michał J Kowalczyk2, Teresa Gasińska3

  • 1Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland.

Ocular Immunology and Inflammation
|August 20, 2019
PubMed

Insights

The Vitamin D Receptor (VDR) gene

Area of Science:

  • Endocrinology
  • Genetics
  • Ophthalmology

Background:

  • Thyroid-associated orbitopathy (TAO) is an autoimmune condition often linked to Graves' disease.
  • The Vitamin D Receptor (VDR) gene's role in autoimmune thyroid diseases is debated.
  • Previous studies on VDR gene polymorphisms and autoimmune thyroid diseases yielded conflicting results.

Purpose of the Study:

  • To investigate the association between specific VDR gene polymorphisms (rs2228570, rs1544410, rs7975232, rs731236, rs11568820) and susceptibility to TAO.
  • To determine if VDR polymorphisms correlate with clinical features of TAO.

Main Methods:

  • Case-control study involving 108 TAO patients and 130 controls.
  • Genotyping of VDR polymorphisms using PCR-RFLP and TaqMan real-time PCR.

Main Results:

  • A significant difference in genotype distribution for VDR polymorphism rs2228570 was observed between TAO patients and controls (p=0.04) under a dominant model.
  • The C allele of rs2228570 showed a slightly increased frequency in TAO patients compared to controls (p=0.05).
  • No significant associations were found between the studied VDR polymorphisms and the clinical manifestations of TAO.

Conclusions:

  • The C allele of VDR polymorphism rs2228570 may be a potential contributing factor to TAO development in Caucasian Polish individuals.
  • Further research is needed to confirm these preliminary findings and elucidate the role of VDR in TAO pathogenesis.
Keywords:
EtiopathogenesisGraves’ diseasegenetic factorsthyroid-associated orbitopathyvitamin D receptor

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