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. 2012 Jun 25;14(3):R154.
doi: 10.1186/ar3890.

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

María Teruel  1 , Carmen P Simeon, Jasper Broen, Madelon C Vonk, Patricia Carreira, Maria Teresa Camps, Rosa García-Portales, Esmeralda Delgado-Frías, Maria Gallego, Gerard Espinosa; Spanish Scleroderma Group; Lorenzo Beretta, Paolo Airó, Claudio Lunardi, Gabriela Riemekasten, Torsten Witte, Thomas Krieg, Alexander Kreuter, Jörg H W Distler, Nicolas Hunzelmann, Bobby P Koeleman, Alexandre E Voskuyl, Annemie J Schuerwegh, Miguel Angel González-Gay, Timothy R D J Radstake, Javier Martin
Collaborators, Affiliations

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

María Teruel et al. Arthritis Res Ther. .

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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