Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China

• DOI: 10.1007/s10067-015-2900-7
• Publication Date: 2015-03-03T02:02:43Z
• Authors: Yunliang Yao; Hui Zhang; Shengwen Shao; Ge Cui; Ting Zhang; Hui Sun
• Keywords: Adult; Family Health; Male; China; Genotype; DNA Methylation; Middle Aged; Polymorphism, Single Nucleotide; Severity of Illness Index; 3. Good health; Arthritis, Rheumatoid; 03 medical and health sciences; 0302 clinical medicine; Asian People; Case-Control Studies; Leukocytes, Mononuclear; Humans; Female; Genetic Predisposition to Disease; Promoter Regions, Genetic; Alleles; Adaptor Proteins, Signal Transducing; Aged

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.