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

Clin Rheumatol. 2015 Apr;34(4):665-71. doi: 10.1007/s10067-015-2900-7. Epub 2015 Mar 4.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Aged
  • Alleles
  • Arthritis, Rheumatoid / ethnology
  • Arthritis, Rheumatoid / genetics*
  • Asian People
  • Case-Control Studies
  • China / ethnology
  • DNA Methylation
  • Family Health
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Leukocytes, Mononuclear / cytology
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Severity of Illness Index

Substances

  • Adaptor Proteins, Signal Transducing
  • TESPA1 protein, human