Lokalize Sklerodermalı Hastalarda Serum Vitamin D Düzeylerinin ve Vitamin D Reseptör Gen Polimorfizminin Araştırılması

Abstract

Localized scleroderma (morphea) is a rare inflammatory disease that affects skin and subcutaneous tissue and consequently ends with fibrosis. The exact pathogenetic mechanisms have not been fully elucidated. Vascular injury, immune response and fibrosis are the most important steps of the pathogenesis. There are numerous studies about relationship between immune system, fibrosis and vitamin D. The aim of this study was to investigate serum 25(OH)D levels and the presence of VDR ApaI and TaqI polymorphisms in patients with morphea. Forty-one morphea patients and 48age- and sex-matched controls were included. PCR and gel electrophoresis were used to detect VDR polymorphisms and liquid chromatography coupled with tandem mass spectrometry(LC-MS/MS) was used to evaluate serum 25(OH)D levels in blood samples. There were 37 female (%90,2) and 4 male (%9,8) in the morphea group. The mean age of patients was 38,68±17,54 years. There was no significant difference in VDR ApaI and TaqI polymorphisms between patient and control groups. Most common genotypes were AA and TT in both groups. All of the patients with progressive disease found to be heterozygous for TaqI polymorphism and this was statistically significant. Mean serum 25(OH)D level of patients was 16,98±11,55 µg/L and control group was 18,02±14,30 µg/L, respectively(p=1,0). There was no significant difference between groups. There was no significant relationship between VDR polymorphisms and vitamin D levels and disease subtype, age of onset, treatment response and accompanying autoimmune diseases.In our study, we found that VDR ApaI and TaqI polymorphisms were not related to morphea susceptibility and TaqI polymorphism might be related to the severity of the disease.