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

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...

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Bibliographic Details
Authors: Teruel, María; McKinney, Cushla; Balsa, Alejandro; Pascual-Salcedo, Dora; Rodríguez-Rodríguez, Luis; Ortiz, Ana María; Gómez Vaquero, Carmen; González-Gay, Miguel A.; Smith, Malcolm; Witte, Torsten; Merriman, Tony; Lie, Benedicte A.; Martín, Javier
Format: Article
Status:Published version
Publication date:2013
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/69372
Online Access:https://hdl.handle.net/2445/69372
Access Level:Open access
Keyword:Artritis reumatoide
Genoma humà
Malalties autoimmunitàries
Cèl·lules T
Rheumatoid arthritis
Human genome
Autoimmune diseases
T cells
Description
Summary: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.