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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.
Abstract:
A uncommon inflammatory condition called morphea causes fibrosis in the skin and subcutaneous tissue. The key stages in the pathophysiology are vascular damage, immunological response, and fibrosis. Numerous research have examined the relationships between the immune system, fibrosis, and vitamin D, but the exact pathogenetic pathways of morphea remain poorly understood. The purpose of this study was to investigate serum 25(OH)D levels and the ApaI (rs7975232) and TaqI (rs731236) polymorphisms of the vitamin D receptor (VDR) in morphea patients. There were 48 age- and sex-matched controls and 41 morphea patients total. VDR polymorphisms were found using PCR tests and gel electrophoresis, and serum 25(OH)D levels were determined using liquid chromatography combined with tandem mass spectrometry (LC-MS/MS). The patient group consisted of 37 females (90.2%) and 4 males (9.8%). The patients' mean age was 38.68 ± 17.54 years. In terms of VDR ApaI and TaqI polymorphisms, there was no discernible difference between the patient and control groups. TaqI polymorphism heterozygosity was discovered in all patients with progressive disease, and this finding was statistically significant (p = 0.012). Patients' mean serum 25(OH)D levels were 16.98 ± 11.55 ng/mL, while those in the control group were 18.02 ± 14.30 ng/mL. VDR polymorphisms, vitamin D levels, disease subtype, age of onset, and responsiveness to treatment did not significantly correlate. In our research, we discovered that TaqI polymorphism may be related to the severity of the disease and that the polymorphisms of the VDR ApaI and TaqI were not associated with morphea susceptibility.
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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