RT Journal Article T1 Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus. A1 Gonzalez-Serna, David A1 Ortiz-Fernandez, Lourdes A1 Vargas, Sofia A1 García, Antonio A1 Raya, Enrique A1 Fernandez-Gutierrez, Benjamin A1 Lopez-Longo, Francisco Javier A1 Balsa, Alejandro A1 Gonzalez-Alvaro, Isidoro A1 Narvaez, Javier A1 Gomez-Vaquero, Carmen A1 Sabio, Jose Mario A1 Garcia-Portales, Rosa A1 Gonzalez-Escribano, Maria Francisca A1 Tolosa, Carles A1 Carreira, Patricia A1 Kiemeney, Lambertus A1 Coenen, Marieke J H A1 Witte, Torsten A1 Schneider, Matthias A1 Gonzalez-Gay, Miguel Angel A1 Martin, Javier K1 Autoimmunity K1 Genetic association study K1 Rheumatoid arthritis K1 Systemic lupus erythematosus AB A rare variant (BAFF-var) of the tumor necrosis factor superfamily 13b (TNFSF13B) gene has been recently associated with multiple sclerosis (MS) and systemic lupus erythematosus (SLE). The aim of this study was to investigate the association between TNFSF13B BAFF-var and susceptibility to rheumatoid arthritis (RA) and replicate that association in SLE. 6,218 RA patients, 2,575 SLE patients and 4,403 healthy controls from three different countries were included in the study. TNFSF13B BAFF-var was genotyped using TaqMan allelic discrimination assay. PLINK software was used for statistical analyses. TNFSF13B BAFF-var was significantly associated with RA (p = 0.015, OR = 1.21, 95% CI = 1.03-1.41) in the Spanish cohort. A trend of association was observed in the Dutch (p = 0.115) and German (p = 0.228) RA cohorts. A meta-analysis of the three RA cohorts included in this study revealed a statistically significant association (p = 0.002, OR = 1.24, 95% CI = 1.10-1.38). In addition, TNFSF13B BAFF-var was significantly associated with SLE in the Spanish (p = 0.001, OR = 1.41, 95% CI = 1.14-1.74) and the German cohorts (p = 0.030, OR = 1.86, 95% CI = 1.05-3.28), with a statistically significant p-value obtained in the meta-analysis (p = 0.0002, OR = 1.46, 95% CI = 1.09-2.32). The results obtained confirm the known association of TNFSF13B BAFF-var with SLE and, for the first time, demonstrate that this variant contributes to susceptibility to RA. PB Nature Publishing Group YR 2018 FD 2018-05-29 LK http://hdl.handle.net/10668/12517 UL http://hdl.handle.net/10668/12517 LA en NO González-Serna D, Ortiz-Fernández L, Vargas S, García A, Raya E, Fernández-Gutierrez B, et al. Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus. Sci Rep. 2018 May 29;8(1):8195. NO We thank Sonia Garcia, and Gema Robledo for their excellent technical assistance, and all the patients and healthy controls for kindly accepting participating in this study. This work was supported by the following grants: P12-BIO-1395 from Consejería de Innovación, Ciencia y Tecnología, Junta de Andalucía (Spain), and the Cooperative Research Thematic Network (RETICS) program, RD16/0012/0004 (RIER), from Instituto de Salud Carlos III (ISCIII, Health Ministry, Madrid, Spain). DGS was supported by the Spanish Ministry of Economy and Competitiveness through the program FPI (SAF2015-66761-P). DS RISalud RD Apr 8, 2025