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 Z.; Balsa Criado, Alejandro; Pascual-Salcedo, Dora; Rodríguez-Rodríguez, Luis; Ortíz, Ana María; Gómez-Vaquero, Carmen; González-Gay, Miguel Ángel; Smith, Malcolm Douglas; Witte, Torsten N.; Merriman, Tony R.; Lie, Benedicte A.; Martín, Javier E.
Format: Article
Publication date:2013
Country:España
Institution:Universidad Autónoma de Madrid
Repository:Biblos-e Archivo. Repositorio Institucional de la UAM
Language:English
OAI Identifier:oai:repositorio.uam.es:10486/665949
Online Access:http://hdl.handle.net/10486/665949
https://dx.doi.org/10.1371/journal.pone.0068295
Access Level:Open access
Keyword:Antigens
Arthritis
Genotype
Polymorphism
Rheumatoid
Medicina
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