title: Association of CD247 polymorphisms with rheumatoid arthritis: a replication study and a meta-analysis.
abstract: 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.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, Granada, Spain. mteruel@ipb.csic.es
authors.forename: María
authors.initials: M
authors.lastname: Teruel
authors.forename: Cushla
authors.initials: C
authors.lastname: McKinney
authors.forename: Alejandro
authors.initials: A
authors.lastname: Balsa
authors.forename: Dora
authors.initials: D
authors.lastname: Pascual-Salcedo
authors.forename: Luis
authors.initials: L
authors.lastname: Rodriguez-Rodriguez
authors.forename: Ana M
authors.initials: AM
authors.lastname: Ortiz
authors.forename: Carmen
authors.initials: C
authors.lastname: Gómez-Vaquero
authors.forename: Miguel A
authors.initials: MA
authors.lastname: González-Gay
authors.forename: Malcolm
authors.initials: M
authors.lastname: Smith
authors.forename: Torsten
authors.initials: T
authors.lastname: Witte
authors.forename: Tony
authors.initials: T
authors.lastname: Merriman
authors.forename: Benedicte A
authors.initials: BA
authors.lastname: Lie
authors.forename: Javier
authors.initials: J
authors.lastname: Martin
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology; D017252:CD3 Complex / Q000235:genetics*; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide
chemical_list: D017252:CD3 Complex; C121704:CD3 antigen, zeta chain