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Title: IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms
Author: 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, José A.
Caminal Montero, Luis
Collado, Paz
De Árgila, Diego
Quiroga Colina, Patricia
Vicente Rabaneda, Esther F.
Triguero Martínez, Ana
Rubio, Esteban
León Luque, Manuel
Blanco Madrigal, Juan María
Galíndez Agirregoikoa, Eva
Martín, Javier
Gualillo, Oreste
Blanco, Ricardo
Castañeda, Santos
González Gay, Miguel A.
López Mejías, Raquel
Keywords: Polimorfisme genètic
Genetic polymorphisms
Issue Date: 22-Sep-2022
Publisher: MDPI AG
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Journal of Clinical Medicine, 2022, vol. 11, issue. 19, p. 5577
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ISSN: 2077-0383
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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