Teruel, MaríaSimeon, Carmen PBroen, JasperVonk, Madelon CCarreira, PatriciaCamps, Maria TeresaGarcía-Portales, RosaDelgado-Frías, EsmeraldaGallego, MariaEspinosa, GerardBeretta, LorenzoAiró, PaoloLunardi, ClaudioRiemekasten, GabrielaWitte, TorstenKrieg, ThomasKreuter, AlexanderDistler, Jörg H WHunzelmann, NicolasKoeleman, Bobby PVoskuyl, Alexandre ESchuerwegh, Annemie JGonzález-Gay, Miguel AngelRadstake, Timothy R D JMartin, Javier2013-12-052013-12-052012-06-25Teruel M, Simeon CP, Broen J, Vonk MC, Carreira P, Camps MT, et al. Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis. Arthritis Res. Ther. 2012; 14(3):R1541478-6354http://hdl.handle.net/10668/1410Journal Article; Research Support, Non-U.S. Gov't;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.enLigando CD40antígenos CD40Predisposición genética a la enfermedadGenotipoHumanosPolimorfismo de Nucleótido SimpleEsclerodermia sistémicaMedical Subject Headings::Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Antigens, Differentiation::Antigens, CD::CD40 LigandMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to DiseaseMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::GenotypeMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single NucleotideMedical Subject Headings::Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma, SystemicMedical Subject Headings::Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Antigens, Differentiation::Antigens, CD::Antigens, CD40research article22731751open access10.1186/ar38901478-6362PMC3446540