Neves Janisleya Silva Ferreira, Visentainer Jeane Eliete Laguila, Reis Denise Manjurma da Silva, Rocha Loures Marco Antonio, Alves Hugo Vicentin, Lara-Armi Fernanda Formaggi, de Alencar Josiane Bazzo, Valentin Zacarias Joana Maira, Sell Ana Maria
Biosciences and Physiopathology, Department of Clinical Analysis and Biomedicine, Maringá State University, Paraná, Brazil.
Department of Basic and Health Science, Maringá State University, Paraná, Brazil.
Int J Inflam. 2020 Dec 8;2020:8880879. doi: 10.1155/2020/8880879. eCollection 2020.
Spondyloarthritis (SpA) is an inflammatory rheumatic disease related to low bone mineral density. Because vitamin D plays an important role in bone metabolism and immune system modulation, the aim of this study was to evaluate the influence of polymorphisms in vitamin D receptor genes () in the development of SpA. In this case-control study, a total of 244 patients with SpA and 197 individuals with no SpA were included. Among the patients, 174 had ankylosing spondylitis (AS) and 66 had psoriatic arthritis (PsA). Genotyping of I (rs2228570 C > T), I (rs1544410 C > T), I (rs7975232 A > C), and I (rs731236 T > C) was performed using PCR-RFLP, while genotyping of was performed using PCR-SSP. Serum levels for hydroxy (OH) vitamin D and the clinical activity index of the disease (BASDAI) were also evaluated. SNPStats and OpenEpi software were used for statistical analysis. The I allele and I genotype were less frequent in PsA compared with controls. The I genotype was associated with a protecting factor for PsA in females, and I was associated with a protecting factor for the disease in positive patients. Notwithstanding, the I genotype was a risk factor for SpA and AS in males. The I genotype was associated with a better clinical activity in PsA. When considering the covariates, vitamin D sufficiency, and gender, the I genotype was associated with a risk factor in males with SpA and AS compared with females with this same genotype. In conclusion, the I rs7975232 polymorphism was associated with PsA, and the I rs2228570 polymorphism was associated with better clinical PsA activity. I and I were associated with SpA and AS when considering gender and vitamin D sufficiency.
脊柱关节炎（SpA）是一种与低骨矿物质密度相关的炎性风湿性疾病。由于维生素D在骨代谢和免疫系统调节中发挥重要作用，本研究旨在评估维生素D受体基因（）多态性对SpA发病的影响。在这项病例对照研究中，共纳入了244例SpA患者和197例无SpA个体。患者中，174例患有强直性脊柱炎（AS），66例患有银屑病关节炎（PsA）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对I（rs2228570 C＞T）、I（rs1544410 C＞T）、I（rs7975232 A＞C）和I（rs731236 T＞C）进行基因分型，采用聚合酶链反应-序列特异性引物（PCR-SSP）对进行基因分型。还评估了血清羟（OH）维生素D水平和疾病临床活动指数（BASDAI）。使用SNPStats和OpenEpi软件进行统计分析。与对照组相比，PsA患者中I等位基因和I基因型的频率较低。I基因型与女性PsA的保护因素相关，I与阳性患者疾病的保护因素相关。尽管如此，I基因型是男性SpA和AS的危险因素。I基因型与PsA更好的临床活动相关。在考虑协变量、维生素D充足状态和性别时，与具有相同基因型的女性相比，I基因型是男性SpA和AS的危险因素。总之，I rs7975232多态性与PsA相关，I rs2228570多态性与更好的PsA临床活动相关。在考虑性别和维生素D充足状态时，I和I与SpA和AS相关。
