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

Autor: 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
Přispěvatelé: Rheumatology, CCA - Immuno-pathogenesis, Universitat de Barcelona, The Spanish Scleroderma Group, [Teruel,M, Martin,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSICGranada, SpainArmilla (Granada), Spain. [Simeon,CP] Department of Internal Medicine, Hospital Valle de Hebron, Barcelona, Spain. [Broen,J, Vonk,MC] Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. [Carreira,P] Department of Rheumatology, Hospital 12 de Octubre, Madrid, Spain. [Camps,MT] Department of Internal Medicine, Hospital Carlos Haya, Málaga, Spain. [García-Portales,R] Department of Rheumatology, Hospital Virgen de la Victoria, Málaga, Spain. [Delgado-Frías,E] Department of Rheumatology, Hospital Universitario de Canarias, La Cuesta, San Cristóbal de La Laguna, Tenerife, Canarias, Spain. [Gallego,M] Department of Internal Medicine, Hospital Central de Asturias, Oviedo, Spain. [Espinosa,G] Department of Autoimmune Diseases, Hospital Clinic, Barcelona, Spain. [Beretta,L] Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico. University of Milan, Milan, Italy. [Airó,P] Rheumatology Unit and Chair, Spedali Civili, Università degli Studi, Brescia, Italy. [Lunardi,C] Department of Medicine, Policlinico GB Rossi, Università degli studi di Verona, Verona, Italy. [Riemekasten,G] Department of Rheumatology and Clinical Immunology, Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany. [Witte,T] Clinic for Immunology and Rheumatology Medical School, Hannover, Germany. [Krieg,T, Hunzelmann,N] Department of Dermatology, University of Cologne, Germany. [Kreuter,A] Department of Dermatology, Allergology, and Venereology, Ruhr University of Bochum, Bochum, Germany. [Distler,JHW] Department of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany. [Koeleman,BP] Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. [Voskuy,AE] Department of Rheumatology, VU University Medical Center, Amsterdam, The Netherlands. [Schuerwegh,AJ] Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. [González-Gay,MA] Department of Rheumatology, Hospital Universitario Marques de Valdecilla, IFIMAV, Santander, Spain. [Radstake,TRDJ] Department of Rheumatology and Clinical Immunology, University Utrecht Medical Center Utrecht, The Netherlands.
Jazyk: angličtina
Rok vydání: 2012
Předmět:
systemic sclerosis
Autoimmune diseases
Genome-wide association study
CD40
CD40L
GWAS
Serology
Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]
0302 clinical medicine
Pulmonary fibrosis
Genotype
Immunology and Allergy
Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma
Systemic [Medical Subject Headings]
skin and connective tissue diseases
Giant cell arteritis
0303 health sciences
Chemicals and Drugs::Biological Factors::Antigens::Antigens
Surface::Antigens
Differentiation::Antigens
CD::Antigens
CD40 [Medical Subject Headings]
Malalties autoimmunitàries
integumentary system
Predisposición genética a la enfermedad
Fibrosi pulmonar
Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings]
Phenotype
Infection and autoimmunity Auto-immunity
transplantation and immunotherapy [NCMLS 1]
Humanos
3. Good health
030220 oncology & carcinogenesis
Evaluation of complex medical interventions Auto-immunity
transplantation and immunotherapy [NCEBP 2]
Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]
Research Article
medicine.medical_specialty
Esclerodermia sistémica
Immunology
CD40 Ligand
Single-nucleotide polymorphism
Polymorphism
Single Nucleotide
03 medical and health sciences
Rheumatology
Internal medicine
medicine
Humans
antígenos CD40
Genetic Predisposition to Disease
CD40 Antigens
Gene
Arteritis de cèl·lules gegants
030304 developmental biology
Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism
Genetic::Polymorphism
Single Nucleotide [Medical Subject Headings]
Scleroderma
Systemic
business.industry
Chemicals and Drugs::Biological Factors::Antigens::Antigens
Surface::Antigens
Differentiation::Antigens
CD::CD40 Ligand [Medical Subject Headings]
medicine.disease
Ligando CD40
Scleroderma (Disease)
Polimorfismo de Nucleótido Simple
Esclerodèrmia
business
Genotipo
Zdroj: Arthritis Research & Therapy
Arthritis Research & Therapy, 14, 3, pp. R154-R154
Arthritis Research & Therapy, 14(3):R154. BioMed Central
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
Teruel, M, Simeon, C P, Broen, J, Vonk, M C, Carreira, P, Camps, M T, Garcia-Portales, R, Agado-Frias, E, Gallego, M, Espinosa, G, Beretta, L, Airo, P, Lunardi, C, Riemekasten, G, Witte, T, Krieg, T, Kreuter, A, Distler, J H W, Hunzelmann, N, Koeleman, BP, Voskuyl, A E, Schuerwegh, A J, Gonzalez-Gay, M A, Radstake, T R D J & Martin, J 2012, ' Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis ', Arthritis Research & Therapy, vol. 14, no. 3, R154 . https://doi.org/10.1186/ar3890
Arthritis Research & Therapy, 14, R154-R154
ISSN: 1478-6354
DOI: 10.1186/ar3890
Popis: 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.
This work was supported by the following grants. JM was funded by SAF2009-11110 from the Spanish Ministry of Science, by CTS-4977 and PI-0590-2010 from Junta de Andalucía, and by RETICS Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), within the VI PN de I+D+i 2008-2011 (FEDER). T.R.D.J.R. was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). JM and TRDJR were sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). TW was awarded grants by DFG WI 1031/6.1 and DFG KFO 250 TP03. MT was supported by Spanish Ministry of Science through the program Juan de la Cierva (JCI-2010-08227).
Databáze: OpenAIRE
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