Association of CD247 polymorphisms with rheumatoid arthritis: a replication study and a meta-analysis

PLoS One. 2013 Jul 5;8(7):e68295. doi: 10.1371/journal.pone.0068295. Print 2013.


Given the role of CD247 in the response of the T cells, its entailment in autoimmune diseases and in order to better clarify the role of this gene in RA susceptibility, we aimed to analyze CD247 gene variants previously associated with other autoimmune diseases (rs1052237, rs2056626 and rs864537) in a large independent European Caucasian population. However, no evidence of association was found for the analyzed CD247 single-nucleotide polymorphisms (SNPs) with RA and with the presence/absence of anti-cyclic citrullinated polypeptide. We performed a meta-analysis including previously published GWAS data from the rs864537 variant, revealing an overall genome-wide significant association between this CD247 SNP and RA with anti-CCP (OR = 0.90, CI 95% = 0.87-0.93, Poverall = 2.1×10(-10)). Our results show for first time a GWAS-level association between this CD247 polymorphism and RA risk.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / immunology
  • CD3 Complex / genetics*
  • Genetic Association Studies*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Odds Ratio
  • Polymorphism, Single Nucleotide*


  • CD3 Complex
  • CD3 antigen, zeta chain

Grants and funding

This work was supported by two Spanish grants from RETICS Program, RD12/0009/0004 (RIER) from Instituto de Salud Carlos III (ISCIII), within the VI PN de I+D+i 2008–2011 (FEDER) and also by grants from the European IMI BTCure Program. MT was supported by Ministerio Economia y Competividad through the program Juan de la Cierva (JCI-2010-08227). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.