Department of Dermatology and Venereology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Department of Dermatology and Venereology, Uşak University Faculty of Medicine, Uşak, Turkey.
Arch Dermatol Res. 2023 Sep;315(7):2119-2127. doi: 10.1007/s00403-023-02612-7. Epub 2023 Mar 24.
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.
一种罕见的炎症性疾病称为硬斑病,可导致皮肤和皮下组织纤维化。其病理生理学的关键阶段是血管损伤、免疫反应和纤维化。许多研究已经研究了免疫系统、纤维化和维生素 D 之间的关系,但硬斑病的确切发病机制仍知之甚少。本研究旨在探讨硬斑病患者血清 25(OH)D 水平及维生素 D 受体(VDR)ApaI(rs7975232)和 TaqI(rs731236)多态性。共纳入 48 例年龄和性别匹配的对照组和 41 例硬斑病患者。采用聚合酶链反应(PCR)试验和凝胶电泳检测 VDR 多态性,采用液相色谱-串联质谱法(LC-MS/MS)测定血清 25(OH)D 水平。患者组中女性 37 例(90.2%),男性 4 例(9.8%)。患者的平均年龄为 38.68±17.54 岁。在 VDR ApaI 和 TaqI 多态性方面,患者组与对照组无明显差异。所有进展性疾病患者均发现 TaqI 多态性杂合子,差异有统计学意义(p=0.012)。患者的平均血清 25(OH)D 水平为 16.98±11.55ng/ml,而对照组为 18.02±14.30ng/ml。VDR 多态性、维生素 D 水平、疾病亚型、发病年龄和治疗反应与病情严重程度无关。在本研究中,我们发现 TaqI 多态性可能与疾病的严重程度有关,而 VDR ApaI 和 TaqI 多态性与硬斑病的易感性无关。