Yao Yunliang, Zhang Hui, Shao Shengwen, Cui Ge, Zhang Ting, Sun Hui
Program in Molecular and Translational Medicine (PMTM), School of Medicine, Huzhou University, 158 Xuefu Road, Huzhou, Zhejiang, China.
Clin Rheumatol. 2015 Apr;34(4):665-71. doi: 10.1007/s10067-015-2900-7. Epub 2015 Mar 4.
Observational and experimental studies in animal models have shown that Tespa1 may be associated with B cell function and the onset of rheumatoid arthritis (RA). We hypothesized that Tespa1 may also play an important role in patients with RA. To test this hypothesis, we investigated the expression level, gene polymorphisms, and promoter methylation of the Tespa1 gene in 77 RA patients and 113 matched healthy controls. We found that the expression of Tespa1 is significantly lower in RA patients with both low and moderate-to-high disease activity. Moreover, patients with familial (first-degree siblings) but not sporadic RA have a statistically significant difference at the rs4758993 locus with healthy people. Furthermore, we found seven methylation sites on the Tespa1 promoter, but no evidence of the association between methylation at these sites and RA susceptibility. These data support a potential role for Tespa1 in the pathogenesis of RA.
在动物模型中的观察性和实验性研究表明，Tespa1可能与B细胞功能及类风湿性关节炎（RA）的发病有关。我们推测，Tespa1在RA患者中可能也发挥着重要作用。为了验证这一假设，我们调查了77例RA患者和113例匹配的健康对照中Tespa1基因的表达水平、基因多态性及启动子甲基化情况。我们发现，疾病活动度低和中高程度的RA患者中，Tespa1的表达均显著降低。此外，患有家族性（一级亲属）而非散发性RA的患者，在rs4758993位点与健康人存在统计学上的显著差异。此外，我们在Tespa1启动子上发现了7个甲基化位点，但没有证据表明这些位点的甲基化与RA易感性之间存在关联。这些数据支持了Tespa1在RA发病机制中的潜在作用。
