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

• Published in: PloS one Vol. 8; no. 7; p. e68295
• Main Authors: Teruel, María, McKinney, Cushla, Balsa, Alejandro, Pascual-Salcedo, Dora, Rodriguez-Rodriguez, Luis, Ortiz, Ana M, Gómez-Vaquero, Carmen, González-Gay, Miguel A, Smith, Malcolm, Witte, Torsten, Merriman, Tony, Lie, Benedicte A, Martin, Javier
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 05.07.2013; Public Library of Science (PLoS)
• Subjects: Arthritis; Arthritis, Rheumatoid - genetics; Arthritis, Rheumatoid - immunology; Artritis reumatoide; Autoimmune diseases; Biology; CD3 Complex - genetics; Citrulline; Cèl·lules T; Disease susceptibility; Ethics; Genes; Genetic aspects; Genetic Association Studies; Genoma humà; Genome-Wide Association Study; Genomes; Genomics; Genotype; Human genome; Humans; Lupus; Lymphocytes; Lymphocytes T; Malalties autoimmunitàries; Medicine; Meta-analysis; Odds Ratio; Polymorphism; Polymorphism, Single Nucleotide; Rheumatoid arthritis; Rheumatoid factor; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Studies; T cell receptors; T cells; Germany; Spain
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0068295

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.