A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility
González-Serna, David (Instituto de Parasitología y Biomedicina "López-Neyra")
Carmona, Elio G. (Instituto de Parasitología y Biomedicina "López-Neyra")
Ortego-Centeno, Norberto (Hospital Universitario San Cecilio (Granada))
Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Solans, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Hernández-Rodríguez, José (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Tolosa, Carlos (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Castañeda, Santos (Instituto de Investigación Hospital Universitario de la Princesa)
Narváez, Javier (Institut d'Investigació Biomèdica de Bellvitge)
Martinez-Valle, Ferran (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Witte, Torsten (Hannover Medical School, Hannover)
Neumann, Thomas (Jena University Hospital (Alemanya))
Holle, Julia (Vasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt)
Beretta, Lorenzo (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano)
Boiardi, Luigi (Azienda Ospedaliera Arcispedale Santa Maria Nuova)
Emmi, Giacomo (University of Florence)
Cimmino, Marco Amedeo (University of Genova)
Vaglio, Augusto (Meyer Children's University Hospital)
Herrick, Ariane L. (The University of Manchester)
Denton, Christopher P. (Royal Free and University College Medical School)
Salvarani, Carlo (Azienda USL-IRCCS di Reggio Emilia and Università di Modena e Reggio Emilia)
Cid, María Cinta (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Morgan, Ann W. (University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit)
Fonseca, Carmen (University College Medical School)
Gonzalez-Gay, MA (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria))
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra")
Márquez, Ana (Hospital Universitario San Cecilio (Granada))
Universitat Autònoma de Barcelona

Data:	2018
Resum:	The TNFSF13B (TNF superfamily member 13b) gene encodes BAFF, a cytokine with a crucial role in the differentiation and activation of B cells. An insertion-deletion variant (GCTGT→A) of this gene, leading to increased levels of BAFF, has been recently implicated in the genetic predisposition to several autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, and rheumatoid arthritis. Based on the elevated levels of this cytokine found in patients with giant cell arteritis (GCA) and systemic sclerosis (SSc), we aimed to assess whether this functional variant also represents a novel genetic risk factor for these two disorders. A total of 1,728 biopsy-proven GCA patients from 4 European cohorts, 4,584 SSc patients from 3 European cohorts and 5,160 ethnically-matched healthy controls were included in the study. The single nucleotide polymorphism (SNP) rs374039502, which colocalizes with the genetic variant previously implicated in autoimmunity, was genotyped using a custom TaqMan assay. First, association analysis was conducted in each independent cohort using χ2 test in Plink (v1. 9). Subsequently, different case/control sets were meta-analyzed by the inverse variance method. No statistically significant differences were found when allele distributions were compared between cases and controls for any of the analyzed cohorts. Similarly, combined analysis of the different sets evidenced a lack of association of the rs374039502 variant with GCA (P = 0. 421; OR (95% CI) = 0. 92 (0. 75-1. 13)) and SSc (P = 0. 500; OR (95% CI) = 1. 05 (0. 91-1. 22)). The stratified analysis considering the main clinical subphenotypes of these diseases yielded similar negative results. Our data suggest that the TNFSF13B functional variant does not contribute to the genetic network underlying GCA and SSc.
Ajuts:	Ministerio de Economía, Industria y Competitividad RD16/0012/0013 Instituto de Salud Carlos III CP17/00008
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	PloS one, Vol. 13 (december 2018) , ISSN 1932-6203

DOI: 10.1371/journal.pone.0209343
PMID: 30586461

9 p, 593.6 KB

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