Vrtaric Alen, Grazio Simeon, Bozovic Marija, Pavicic Tomislav, Kavanagh Hana Skala, Vajdic Ines Doko, Grubisic Frane, Prtenjaca Lucija, Gabaj Nora Nikolac
Department of Clinical Chemistry, Sestre Milosrdnice University Hospital Center, Vinogradska Cesta 29, Zagreb, Croatia.
Department for Rheumatology, Physical and Rehabilitation Medicine, Sestre Milosrdnice University Hospital Center, Vinogradska Cesta 29, Zagreb, Croatia.
Clin Rheumatol. 2025 Sep 4. doi: 10.1007/s10067-025-07610-w.
INTRODUCTION/OBJECTIVES: Psoriatic arthritis (PsA) is a chronic inflammatory rheumatic disease strongly associated with psoriasis. We hypothesized that the presence of variant alleles in VDR may be associated with worse clinical outcomes. The aim of this study was to evaluate a possible association between the FokI and TaqI polymorphisms in the VDR gene and clinical markers of disease activity and functional status in PsA.
Study included 68 patients with PsA. Diagnosis was confirmed according to fulfillment of CASPAR criteria for PsA. Disease activity for peripheral arthritis was evaluated using the DAPSA index; global assessment of disease activity and pain were assessed using VAS. BASDAI was used for the axial form of PsA. Functional ability was assessed by HAQ-DI and FACIT-F. BASFI was used for measuring the functional status of axial involvement. Overall functional mobility was assessed with TUG. Laboratory tests included genotyping of the FokI (rs2228570) and TaqI (rs731236), as well as CRP, ESR, IL-6, and 25(OH)D3. Significance was set at P < 0.05.
Significant difference in FokI polymorphism was observed for intensity of pain, with the T/T genotype reporting worse outcomes than C/C (P = 0.049). BASDAI showed significant differences (P = 0.026), with T/T genotype having higher values than C/C genotype.
FokI polymorphism may have a potential role in modulating disease activity and pain perception in patients with PsA, whereas the TaqI polymorphism appears to have less impact on clinical outcomes. The findings emphasize the need for further research to better understand the genetic impact on disease severity in PsA.
引言/目的:银屑病关节炎(PsA)是一种与银屑病密切相关的慢性炎症性风湿性疾病。我们推测维生素D受体(VDR)中变异等位基因的存在可能与更差的临床结局相关。本研究的目的是评估VDR基因中FokI和TaqI多态性与PsA疾病活动和功能状态的临床标志物之间的可能关联。
研究纳入68例PsA患者。根据PsA的CASPAR标准确诊。使用DAPSA指数评估外周关节炎的疾病活动度;使用视觉模拟评分法(VAS)评估疾病活动度和疼痛的整体情况。使用巴斯强直性脊柱炎疾病活动指数(BASDAI)评估PsA的轴向型。通过健康评估问卷残疾指数(HAQ-DI)和功能性癌症治疗-通用量表(FACIT-F)评估功能能力。使用巴斯强直性脊柱炎功能指数(BASFI)测量轴向受累的功能状态。使用定时起立行走测试(TUG)评估整体功能移动性。实验室检测包括FokI(rs2228570)和TaqI(rs731236)的基因分型,以及C反应蛋白(CRP)、红细胞沉降率(ESR)、白细胞介素-6(IL-6)和25-羟维生素D3 [25(OH)D3]。显著性设定为P < 0.05。
在疼痛强度方面观察到FokI多态性存在显著差异,T/T基因型的结局比C/C基因型更差(P = 0.049)。BASDAI显示出显著差异(P = 0.026),T/T基因型的值高于C/C基因型。
FokI多态性可能在调节PsA患者的疾病活动度和疼痛感知方面具有潜在作用,而TaqI多态性对临床结局的影响似乎较小。这些发现强调需要进一步研究以更好地理解基因对PsA疾病严重程度的影响。