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

• Published in: PloS one Vol. 13; no. 12; p. e0209343
• Main Authors: González-Serna, David, Carmona, Elio G, Ortego-Centeno, Norberto, Simeón, Carmen P, Solans, Roser, Hernández-Rodríguez, José, Tolosa, Carlos, Castañeda, Santos, Narváez, Javier, Martinez-Valle, Ferran, Witte, Torsten, Neumann, Thomas, Holle, Julia, Beretta, Lorenzo, Boiardi, Luigi, Emmi, Giacomo, Cimmino, Marco A, Vaglio, Augusto, Herrick, Ariane L, Denton, Christopher P, Salvarani, Carlo, Cid, María C, Morgan, Ann W, Fonseca, Carmen, González-Gay, Miguel A, Martín, Javier, Márquez, Ana
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 26.12.2018; Public Library of Science (PLoS)
• Subjects: Adult; Aged; Aged, 80 and over; Arteritis; Arthritis; Association analysis; Autoimmune diseases; B cells; B-Cell Activating Factor - genetics; Binding sites; Biology and Life Sciences; Biomedical research; Biopsy; BLyS protein; Case-Control Studies; Cell activation; Chronic conditions; Clonal deletion; Cohort Studies; Consortia; Cytokines; Cèl·lules B; Europe; Female; Gene deletion; Gene expression; Gene polymorphism; Gene Regulatory Networks - genetics; Genetic aspects; Genetic diversity; Genetic Predisposition to Disease; Genetic variance; Genetic variation; Genotyping Techniques; Genètica molecular; Giant Cell Arteritis - genetics; Giant Cell Arteritis - pathology; Health aspects; Homeostasis; Hospitals; Humans; INDEL Mutation; Insertion; Internal medicine; Lymphocytes B; Male; Medicine; Medicine and Health Sciences; Middle Aged; Molecular genetics; Multiple sclerosis; Pathogenesis; Patients; Physical Sciences; Polymorphism; Polymorphism, Single Nucleotide; Research and Analysis Methods; Rheumatoid arthritis; Rheumatology; Risk analysis; Risk factors; Scleroderma; Scleroderma (Disease); Scleroderma, Systemic - genetics; Scleroderma, Systemic - pathology; Single-nucleotide polymorphism; Statistical analysis; Systemic diseases; Systemic lupus erythematosus; Systemic sclerosis; Temporal arteritis; Tumor necrosis factor-TNF; Vein & artery diseases; Europe; Italy; United Kingdom > UK; Germany; Spain

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 sever...