PLoS ONE (Jan 2013)

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

  • María Teruel,
  • Cushla McKinney,
  • Alejandro Balsa,
  • Dora Pascual-Salcedo,
  • Luis Rodriguez-Rodriguez,
  • Ana M Ortiz,
  • Carmen Gómez-Vaquero,
  • Miguel A González-Gay,
  • Malcolm Smith,
  • Torsten Witte,
  • Tony Merriman,
  • Benedicte A Lie,
  • Javier Martin

DOI
https://doi.org/10.1371/journal.pone.0068295
Journal volume & issue
Vol. 8, no. 7
p. e68295

Abstract

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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.