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Vitamin D receptor polymorphisms in immune thrombocytopenic purpura

Sule Yesil1, Hikmet Gulsah Tanyildiz1, Sibel Akpinar Tekgunduz1

  • 1Department of Pediatric Oncology and Hematology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

Pediatrics International : Official Journal of the Japan Pediatric Society
|March 5, 2017
PubMed

Insights

Vitamin D receptor (VDR) Cdx-2 gene variants are linked to childhood immune thrombocytopenic purpura (ITP). The GG genotype is more common in ITP patients, while the A allele may offer protection against ITP.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Vitamin D receptor (VDR) polymorphisms are implicated in immune disorders.
  • The association between VDR variants and immune thrombocytopenic purpura (ITP) in children remains uninvestigated.

Purpose of the Study:

  • To investigate the potential association between VDR gene polymorphisms and the risk of ITP in pediatric patients.

Main Methods:

  • Genotyping of five VDR polymorphisms (Cdx-2, FokI, BsmI, ApaI, TaqI) was performed.
  • The study included 44 children diagnosed with ITP and 100 healthy controls.

Main Results:

  • A significant difference in Cdx-2 genotype distribution was observed between ITP patients and controls (P=0.025).
  • The homozygous GG genotype of Cdx-2 was overrepresented in ITP patients.
  • The A allele of Cdx-2 was associated with a reduced risk of ITP (OR, 0.343; 95% CI: 0.150-0.782).
  • No significant associations were found for Fok1, Bsm1, Apa1, and Taq1 polymorphisms.

Conclusions:

  • The Cdx-2 variant of the Vitamin D receptor (VDR) gene shows a significant interaction with childhood immune thrombocytopenia.
  • These findings suggest a potential genetic predisposition to ITP related to VDR polymorphisms.
Abstract

Keywords:
Vitamin D receptorchildrenimmune thrombocytopenic purpurapolymorphism

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