Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis
1 Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Avda. del Conocimiento s/n. 18010, Granada, SpainArmilla (Granada), Spain
2 Department of Internal Medicine, Hospital Valle de Hebron, Passeig de la Vall d'Hebron 119 08035 Barcelona, Spain
3 Department of Rheumatology, Radboud University Nijmegen Medical Centre, Comeniuslaan 4 6525 HP Nijmegen, The Netherlands
4 Department of Rheumatology, Hospital 12 de Octubre, Avda. de Córdoba s/n 28041, Madrid, Spain
5 Department of Internal Medicine, Hospital Carlos Haya, Avda Carlos Haya s/n 29010 Málaga, Spain
6 Department of Rheumatology, Hospital Virgen de la Victoria, Campus de Teatinos s/n 29010 Málaga, Spain
7 Department of Rheumatology, Hospital Universitario de Canarias, Ctra. Cuesta-Taco, s/n 38320, La Cuesta, San Cristóbal de La Laguna, Tenerife, Canarias, Spain
8 Department of Internal Medicine, Hospital Central de Asturias, Celestino Villamil, s/n 33006 Oviedo, Spain
9 Department of Autoimmune Diseases, Hospital Clinic, Carrer de Villarroel, 170 08036 Barcelona, Spain
10 See Acknowledgements
11 Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Via Francesco Sforza, 35 20122 and University of Milan, Via Festa del Perdono, 7 20122, Milan, Italy
12 Rheumatology Unit and Chair, Spedali Civili, Università degli Studi, Piazzale Spedali Civili, 1 25123 Brescia, Italy
13 Department of Medicine, Policlinico GB Rossi, Università degli studi di Verona, Via dell'Artigliere, 8 37129 Verona, Italy
14 Department of Rheumatology and Clinical Immunology, Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Charitéplatz 1, 10117 Berlin, Germany
15 Clinic for Immunology and Rheumatology Medical School, Carl-Neuberg-Str, 1 30625, Hannover, Germany
16 Department of Dermatology, University of Cologne, Kerpener Str 62, 50924 Köln, Germany
17 Department of Dermatology, Allergology, and Venereology, Ruhr University of Bochum, Stiepeler Straße 129 44801 Bochum, Germany
18 Department of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Schillerstraße 1 91054, Erlangen, Germany
19 Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg Stratenum 3508 AB, Utrecht, The Netherlands
20 Department of Rheumatology, VU University Medical Center, De Boelelaan 1117 1081 HZ Amsterdam, The Netherlands
21 Department of Rheumatology, Leiden University Medical Center, Albinusdreef 2 2300 RC, Leiden, The Netherlands
22 Department of Rheumatology, Hospital Universitario Marques de Valdecilla, IFIMAV, Avda. Valdecilla, 25, 39008 Santander, Spain
23 Department of Rheumatology and Clinical Immunology, University Utrecht Medical Center, Universiteitsweg 100 Stratenum 3508 AB, Utrecht, The Netherlands
Arthritis Research & Therapy 2012, 14:R154 doi:10.1186/ar3890Published: 25 June 2012
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).
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.
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.
Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.