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

Abstract: ABSTRACT: 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 ?2 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: PLoS ONE 13(12): e0209343.

Editorial: Public Library of Science

 Año de publicación: 2018

Nº de páginas: 9

Tipo de publicación: Artículo de Revista

 DOI: 10.1371/journal.pone.0209343

ISSN: 1932-6203

Proyecto español: RD16/0012/0013

Url de la publicación: https://doi.org/10.1371/journal.pone.0209343

Autores/as

GONZÁLEZ-SERNA, DAVID

CARMONA PINTO, ELIO GREGORIO

ORTEGO-CENTENO, NORBERTO

SIMEÓN-AZNAR, CARMEN PILAR

SOLANS LAQUE, ROSER

HERNÁNDEZ-RODRÍGUEZ, JOSÉ

TOLOSA VILELLA, CARLOS

CASTAÑEDA SANZ, SANTOS

NARVÁEZ GARCÍA, FRANCISCO JAVIER

MARTINEZ-VALLE, FERRÁN

EUROPEAN GCA CONSORTIUM

EUROPEAN SCLERODERMA GROUP