A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility

David González-Serna, Elio G. Carmona, Norberto Ortego-Centeno, Carmen P. Simeón, Roser Solans, José Hernández-Rodríguez, Carlos Tolosa, Santos Castañeda, Javier Narváez, Ferran Martinez-Valle, Torsten Witte, Thomas Neumann, Julia Holle, Lorenzo Beretta, Luigi Boiardi, Giacomo Emmi, Marco A. Cimmino, Augusto Vaglio, Ariane L. Herrick, Christopher P. DentonCarlo Salvarani, María C. Cid, Ann W. Morgan, Carmen Fonseca, Miguel A. González-Gay, Javier Martín, Ana Márquez

Research output: Contribution to journalArticleResearch

5 Citations (Scopus)


© 2018 González-Serna et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Background 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. Methods 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. Results 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. Conclusion Our data suggest that the TNFSF13B functional variant does not contribute to the genetic network underlying GCA and SSc.
Original languageEnglish
Article numbere0209343
JournalPloS one
Publication statusPublished - 1 Dec 2018


Dive into the research topics of 'A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility'. Together they form a unique fingerprint.

Cite this