IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms

CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a...

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Detalhes bibliográficos
Autores: Batista-Liz, Joao Carlos, Genre, Fernanda, Pulito-Cueto, Verónica, Remuzgo-Martínez, Sara, Prieto-Peña, Diana, Márquez, Ana, Ortego-Centeno, Norberto, Leonardo, María Teresa, Peñalba, Ana, Narváez, Javier, Martín-Penagos, Luis, Belmar-Vega, Lara, Gómez Fernández, Cristina, Miranda-Filloy, J. A., Caminal-Montero, Luis, Collado, Paz, Árgila, Diego de, Quiroga, Patricia, Vicente, Esther, Triguero-Martínez, Ana, Rubio, Esteban, León Luque, Manuel, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, E., Martín, Javier, Gualillo, Oreste, Blanco, Ricardo, Castañeda, Santos, González-Gay, Miguel A., López-Mejías, Raquel
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/280389
Acesso em linha:http://hdl.handle.net/10261/280389
Access Level:acceso abierto
Palavra-chave:IgA vasculitis
Henoch–Schönlein purpura
CD40
BLK
Polymorphisms
Descrição
Resumo:CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV.

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