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Open Access 01-06-2012 | Research article

Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis

Authors: María Teruel, Carmen P Simeon, Jasper Broen, Madelon C Vonk, Patricia Carreira, Maria Teresa Camps, Rosa García-Portales, Esmeralda Delgado-Frías, Maria Gallego, Gerard Espinosa, Lorenzo Beretta, Paolo Airó, Claudio Lunardi, Gabriela Riemekasten, Torsten Witte, Thomas Krieg, Alexander Kreuter, Jörg HW Distler, Nicolas Hunzelmann, Bobby P Koeleman, Alexandre E Voskuyl, Annemie J Schuerwegh, Miguel Ángel González-Gay, Timothy RDJ Radstake, Javier Martin, the Spanish Scleroderma Group

Published in: Arthritis Research & Therapy | Issue 3/2012

Abstract

Introduction

The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc).

Methods

In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes.

Results

No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis.

Conclusions

Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.

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Title: Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis
Authors: María Teruel
Carmen P Simeon
Jasper Broen
Madelon C Vonk
Patricia Carreira
Maria Teresa Camps
Rosa García-Portales
Esmeralda Delgado-Frías
Maria Gallego
Gerard Espinosa
Lorenzo Beretta
Paolo Airó
Claudio Lunardi
Gabriela Riemekasten
Torsten Witte
Thomas Krieg
Alexander Kreuter
Jörg HW Distler
Nicolas Hunzelmann
Bobby P Koeleman
Alexandre E Voskuyl
Annemie J Schuerwegh
Miguel Ángel González-Gay
Timothy RDJ Radstake
Javier Martin
the Spanish Scleroderma Group
Publication date: 01-06-2012
Publisher: BioMed Central
Published in: Arthritis Research & Therapy / Issue 3/2012
Electronic ISSN: 1478-6362
DOI: https://doi.org/10.1186/ar3890

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Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis

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Introduction

Methods

Results

Conclusions

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