BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis

BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases....

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Detalles Bibliográficos
Autores: Prieto Peña, Diana, Genre, Fernanda, Remuzgo Martínez, Sara, Pulito Cueto, Verónica, Atienza Mateo, Belén, Llorca, Javier, Sevilla Pérez, Belén, Ortego Centeno, Norberto, Lera Gómez, Leticia, Leonardo, María Teresa, Peñalba, Ana, Narváez García, Francisco Javier, Martín Penagos, Luis, Rodrigo, Emilio, Miranda Filloy, José A., Caminal Montero, Luis, Collado, Paz, Sánchez Pérez, Javier, Argila, Diego de, Rubio, Esteban, Luque, Manuel León, Blanco Madrigal, Juan María, Galíndez Agirregoikoa, Eva, Gualillo, Oreste, Martín, Javier, Castañeda, Santos, Blanco, Ricardo, González Gay, Miguel A., López Mejías, Raquel
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/178993
Acceso en línea:https://hdl.handle.net/2445/178993
Access Level:acceso abierto
Palabra clave:Immunoglobulines
Vasculitis
Malalties autoimmunitàries
Immunoglobulins
Autoimmune diseases
Descripción
Sumario:BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV.

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