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Arthritis Research & Therapy
Published in: Arthritis Research & Therapy 2/2012

Open Access 01-04-2012 | Research article

A multicenter study confirms CD226gene association with systemic sclerosis-related pulmonary fibrosis

Authors: Lara Bossini-Castillo, Carmen P Simeon, Lorenzo Beretta, Jasper C Broen, Madelon C Vonk, Raquel Ríos-Fernández, Gerard Espinosa, Patricia Carreira, María T Camps, Maria J Castillo, Miguel A González-Gay, Emma Beltrán, María del Carmen Freire, Javier Narváez, Carlos Tolosa, Torsten Witte, Alexander Kreuter, Annemie J Schuerwegh, Anna-Maria Hoffmann-Vold, Roger Hesselstrand, Claudio Lunardi, Jacob M van Laar, Meng May Chee, Ariane Herrick, Bobby PC Koeleman, Christopher P Denton, Carmen Fonseca, Timothy RDJ Radstake, Javier Martin, the Spanish Scleroderma Group

Published in: Arthritis Research & Therapy | Issue 2/2012

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Abstract

Introduction

CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population.

Methods

A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays.

Results

Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (PBonf = 3.18E-02 OR 1.27 (1.05 to 1.54)).

Conclusion

Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis.
Appendix
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Metadata
Title
A multicenter study confirms CD226gene association with systemic sclerosis-related pulmonary fibrosis
Authors
Lara Bossini-Castillo
Carmen P Simeon
Lorenzo Beretta
Jasper C Broen
Madelon C Vonk
Raquel Ríos-Fernández
Gerard Espinosa
Patricia Carreira
María T Camps
Maria J Castillo
Miguel A González-Gay
Emma Beltrán
María del Carmen Freire
Javier Narváez
Carlos Tolosa
Torsten Witte
Alexander Kreuter
Annemie J Schuerwegh
Anna-Maria Hoffmann-Vold
Roger Hesselstrand
Claudio Lunardi
Jacob M van Laar
Meng May Chee
Ariane Herrick
Bobby PC Koeleman
Christopher P Denton
Carmen Fonseca
Timothy RDJ Radstake
Javier Martin
the Spanish Scleroderma Group
Publication date
01-04-2012
Publisher
BioMed Central
Published in
Arthritis Research & Therapy / Issue 2/2012
Electronic ISSN: 1478-6362
DOI
https://doi.org/10.1186/ar3809

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