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

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...

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Detalles Bibliográficos
Autores: Teruel, María, Simeón Aznar, Carmen Pilar, Broen, Jasper C., Vonk, Madelon C., Carreira, Patricia, Camps García, María Teresa, García-Portales, Rosa, Delgado-Frías, Esmeralda, Gallego, Maria, Espinosa Garriga, Gerard, Spanish Scleroderma Study Group (SSSG), Beretta, Lorenzo, Airó, Paolo, Lunardi, Claudio, Riemekasten, Gabriela, Witte, Torsten, Krieg, Thomas, Kreuter, Alexander, Distler, Jörg H.V., Hunzelmann, Nicolas, Koeleman, Bobby P. C., Voskuyl, Alexandre E., Schuerwegh, Annemie J., González-Gay, Miguel A., Radstake, Timothy R.D.J., Martín, Javier, Narváez García, Francisco Javier
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2012
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/119578
Acceso en línea:https://hdl.handle.net/2445/119578
Access Level:acceso abierto
Palabra clave:Arteritis de cèl·lules gegants
Fibrosi pulmonar
Esclerodèrmia
Malalties autoimmunitàries
Giant cell arteritis
Pulmonary fibrosis
Scleroderma (Disease)
Autoimmune diseases
Descripción
Sumario: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.