@article{10902/31324,
year = {2012},
url = {https://hdl.handle.net/10902/31324},
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.},
organization = {We thank Sofia Vargas, Sonia Garcia, and Gema Robledo for their excellent technical assistance, and all the patients and healthy controls for kindly accepting their essential collaboration. We thank Banco Nacional de ADN (University of Salamanca, Spain) for supplying part of the control material. We also thank EUSTAR (The EULAR Scleroderma Trials and Research Group) and the German Network of Systemic Sclerosis for the facilitation of this project.
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).

Spanish Scleroderma Group:

Norberto Ortego-Centeno, José Luis Callejas, and Raquel Ríos, Systemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Clínico Universitario San Cecilio, Granada; Nuria Navarrete and Antonio Garcia, Department of Internal Medicine, Hospital Virgen de las Nieves, Granada; Antonio Fernández-Nebro, Department of Rheumatology, Hospital Carlos Haya, Málaga; María F. González-Escribano, Department of Immunology, Hospital Virgen del Rocío, Sevilla; Julio Sánchez-Román and Mª Jesús Castillo, Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla; Mª Ángeles Aguirre and Inmaculada Gómez-Gracia, Department of Rheumatology, Hospital Reina Sofía, Córdoba; Benjamín Fernández-Gutiérrez and Luis Rodríguez-Rodríguez, Department of Rheumatology, Hospital Clínico San Carlos, Madrid; Esther Vicente, Department of Rheumatology, Hospital La Princesa, Madrid; Mónica Fernández Castro and José Luis Andreu, Department of Rheumatology, Hospital Puerta del Hierro, Madrid; Paloma García de la Peña, Department of Rheumatology, Hospital Universitario Madrid Norte Sanchinarro, Madrid; Francisco Javier López-Longo and Lina Martínez-Estupiñán, Department of Rheumatology, Hospital General Universitario Gregorio Marañón, Madrid; Anna Pros, Department of Rheumatology, Hospital Del Mar, 08003 Barcelona; Vicente Fonollosa, Department of Internal Medicine, Hospital Valle de Hebrón, Barcelona; Carlos Tolosa, Department of Internal Medicine, Hospital Parc Tauli, Sabadell; Mónica Rodríguez Carballeira, Department of Internal Medicine, Hospital Universitari Mútua Terrasa, Barcelona; Ivan Castellví, Unidad de Reumatología, Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Barcelona; Francisco Javier Narváez, Department of Rheumatology, Hospital Universitari de Bellvitge, Barcelona; Francisco Javier Blanco-García, Natividad Oreiro, and María Ángeles Robles, Department of Rheumatology, INIBIC-Hospital Universitario A Coruña, A Coruña; María Victoria Egurbide, Department of Internal Medicine, Hospital de Cruces, Vizcaya; Luis Sáez-Comet, Systemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario Miguel Servet, Zaragoza; Ricardo Blanco, Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander; Bernardino Díaz and Luis Trapiella, Department of Internal Medicine, Hospital Central de Asturias, Oviedo; Federico Díaz and Vanesa Hernández, Department of Rheumatology, Hospital Universitario de Canarias, Tenerife; Emma Beltrán, Department of Rheumatology, Hospital del Doctor Peset Aleixandre, Valencia; and José Andrés Román-Ivorra, Department of Rheumatology, Hospital Universitari i Politecnic La Fe, Valencia.},
publisher = {BioMed Central},
publisher = {Arthritis Research & Therapy, 2012, 14(3), R154},
title = {Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis},
author = {Teruel, María and Simeón, Carmen P. and Broen, Jasper and Vonk, Madelon C. and Carreira, Patricia and Camps, María Teresa and García-Portales, Rosa and Delgado-Frías, Esmeralda and Gallego, María and Espinosa, Gerard and Beretta, Lorenzo and Airó, Paolo and Lunardi, Claudio and Riemekasten, Gabriela and Witte, Torsten and Krieg, Thomas and Kreuter, Alexander and Distler, Jörg H. W. and González-Gay Mantecón, Miguel Ángel},
}