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cc-by (c) González Serna, David et al., 2018
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/176795

Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus

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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.

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GONZÁLEZ SERNA, David, ORTIZ FERNÁNDEZ, Lourdes, VARGAS, Sofía, GARCÍA, Antonio, RAYA, Enrique, FERNÁNDEZ GUTIÉRREZ, Benjamín, LÓPEZ LONGO, Francisco j., BALSA, Alejandro, GONZÁLEZ ÁLVARO, Isidoro, NARVÁEZ GARCÍA, Francisco javier, GÓMEZ VAQUERO, Carmen, SABIO, José mario, GARCÍA PORTALES, Rosa, GONZÁLEZ ESCRIBANO, María francisca, TOLOSA VILELLA, Carles, CARREIRA, Patricia, KIEMENEY, Lambertus, COENEN, Marieke j.h., WITTE, Torsten, SCHNEIDER, Matthias, GONZÁLEZ GAY, Miguel a., MARTÍN, Javier. Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus. _Scientific Reports_. 2018. Vol. 8, núm. 1, pàgs. 8195. [consulta: 20 de gener de 2026]. ISSN: 2045-2322. [Disponible a: https://hdl.handle.net/2445/176795]

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