Serum vitamin D levels and vitamin D receptor gene ApaI and TaqI polymorphisms in patients with morphea: a

Sema Koç Yıldırım1,2, Tahmina Najafova3, Sibel Ersoy Evans4

  • 1Department of Dermatology and Venereology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. semakocyildirim@gmail.com.

Insights

Morphea patients showed no difference in vitamin D receptor (VDR) gene variants compared to controls. However, TaqI polymorphism was linked to progressive disease, suggesting a role in morphea severity.

Area of Science:

  • Dermatology
  • Immunology
  • Genetics

Background:

  • Morphea is an inflammatory skin condition characterized by fibrosis.
  • Its exact pathogenesis involving the immune system, fibrosis, and vitamin D is not fully understood.

Purpose of the Study:

  • To investigate serum 25(OH)D levels and vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in morphea patients.
  • To explore potential associations between these factors and morphea susceptibility or disease progression.

Main Methods:

  • Compared 41 morphea patients with 48 age- and sex-matched controls.
  • Assessed VDR ApaI (rs7975232) and TaqI (rs731236) polymorphisms using PCR and gel electrophoresis.
  • Measured serum 25(OH)D levels via liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Main Results:

  • No significant differences in VDR ApaI or TaqI polymorphisms between morphea patients and controls.
  • TaqI polymorphism heterozygosity was significantly more common in patients with progressive morphea (p=0.012).
  • Mean serum 25(OH)D levels were similar in patients (16.98 ng/mL) and controls (18.02 ng/mL).

Conclusions:

  • VDR ApaI and TaqI polymorphisms are not associated with morphea susceptibility.
  • TaqI polymorphism may be linked to morphea disease severity.
  • Vitamin D levels and VDR polymorphisms did not correlate with disease subtype, onset, or treatment response.

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