Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
Doctorado en Ciencias Biomédicas, Facultad de Ciencias Químico-Biológicas, Universidad Autónoma de Guerrero, Chilpancingo de los Bravo, Guerrero, Mexico.
Clin Rheumatol. 2019 Jun;38(6):1643-1654. doi: 10.1007/s10067-019-04459-8. Epub 2019 Feb 12.
Systemic sclerosis (SSc) is a complex autoimmune disease, characterized by microvascular lesions, autoimmunity, and fibrosis. It is suggested that MIF participates in the amplification of the proinflammatory process in SSc; moreover, the promoter polymorphisms - 794 CATT (rs5844572) and - 173G>C (rs755622) in the MIF gene have been associated with an increase in MIF serum levels in several autoimmune diseases. The aim of this study was to analyze the relationship of the - 794 CATT and - 173G>C MIF polymorphisms with mRNA expression, MIF serum levels, and the Th1/Th2/Th17 cytokine profile in SSc.
A case-control study was carried out that included 50 patients with SSc and 100 control subjects (CS). Both polymorphisms were genotyped by PCR and PCR-RFLP. MIF levels were measured by ELISA kit. The cytokine profile and the MIF mRNA expression were quantified by BioPlex MagPix system and real-time PCR, respectively.
An association between the - 794 CATT and - 173*C MIF alleles and the 7C haplotype with SSc susceptibility was found (p < 0.05). Also, the 7C haplotype was associated with increased MIF mRNA expression (p = 0.03) in SSc. In addition, an increase of IL-1β and IL-6 serum levels in SSc patients was found as well as a positive correlation between MIF serum levels and Th1 and Th17 cytokine profiles.
The MIF 7C haplotype is a susceptibility marker for SSc in the southern Mexican population and is associated with MIF mRNA expression. Moreover, there is a positive correlation between MIF serum levels and Th1 and Th17 inflammatory response in SSc.
系统性硬化症（SSc）是一种复杂的自身免疫性疾病，其特征为微血管损伤、自身免疫和纤维化。有研究表明，MIF 参与 SSc 中促炎过程的放大；此外，MIF 基因中的启动子多态性-794 CATT（rs5844572）和-173G>C（rs755622）与几种自身免疫性疾病中 MIF 血清水平的升高有关。本研究旨在分析 MIF-794 CATT 和-173G>C 多态性与 SSc 中 mRNA 表达、MIF 血清水平以及 Th1/Th2/Th17 细胞因子谱之间的关系。
进行了一项病例对照研究，该研究纳入了 50 名 SSc 患者和 100 名对照者（CS）。通过 PCR 和 PCR-RFLP 对两种多态性进行基因分型。通过 ELISA 试剂盒测量 MIF 水平。通过 BioPlex MagPix 系统和实时 PCR 分别定量细胞因子谱和 MIF mRNA 表达。
发现 MIF-794 CATT 和-173*C 等位基因与 -7C 单倍型与 SSc 易感性相关（p<0.05）。此外，-7C 单倍型与 SSc 中 MIF mRNA 表达增加相关（p=0.03）。此外，在 SSc 患者中发现 IL-1β和 IL-6 血清水平升高，并且 MIF 血清水平与 Th1 和 Th17 细胞因子谱之间呈正相关。
MIF 7C 单倍型是墨西哥南部人群 SSc 的易感标志物，与 MIF mRNA 表达相关。此外，在 SSc 中，MIF 血清水平与 Th1 和 Th17 炎症反应之间存在正相关。
