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:10.1371/journal.pone.0068295

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

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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, P_overall = 2.1×10^-10). Our results show for first time a GWAS-level association between this CD247 polymorphism and RA risk.

Original language	English
Article number	e68295
Journal	PLoS One
Volume	8
Issue number	7
DOIs	https://doi.org/10.1371/journal.pone.0068295
Publication status	Published - 5 Jul 2013
Externally published	Yes

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10.1371/journal.pone.0068295Licence: CC BY

Teruel_Association_P2013Final published version, 162 KBLicence: CC BY

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Teruel, M., McKinney, C., Balsa, A., Pascual-Salcedo, D., Rodriguez-Rodriguez, L., Ortiz, A. M., Gómez-Vaquero, C., González-Gay, M. A., Smith, M., Witte, T., Merriman, T., Lie, B. A., & Martin, J. (2013). Association of CD247 Polymorphisms with Rheumatoid Arthritis: A Replication Study and a Meta-Analysis. PLoS One, 8(7), [e68295]. https://doi.org/10.1371/journal.pone.0068295

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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.",

author = "Mar{\'i}a Teruel and Cushla McKinney and Alejandro Balsa and Dora Pascual-Salcedo and Luis Rodriguez-Rodriguez and Ortiz, {Ana M.} and Carmen G{\'o}mez-Vaquero and Gonz{\'a}lez-Gay, {Miguel A.} and Malcolm Smith and Torsten Witte and Tony Merriman and Lie, {Benedicte A.} and Javier Martin",

year = "2013",

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T1 - Association of CD247 Polymorphisms with Rheumatoid Arthritis

T2 - A Replication Study and a Meta-Analysis

AU - Teruel, María

AU - McKinney, Cushla

AU - Balsa, Alejandro

AU - Pascual-Salcedo, Dora

AU - Rodriguez-Rodriguez, Luis

AU - Ortiz, Ana M.

AU - Gómez-Vaquero, Carmen

AU - González-Gay, Miguel A.

AU - Smith, Malcolm

AU - Witte, Torsten

AU - Merriman, Tony

AU - Lie, Benedicte A.

AU - Martin, Javier

PY - 2013/7/5

Y1 - 2013/7/5

N2 - 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.

AB - 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.

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M3 - Review article

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AN - SCOPUS:84879832865

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JO - PLoS One

JF - PLoS One

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Association of CD247 Polymorphisms with Rheumatoid Arthritis: A Replication Study and a Meta-Analysis

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