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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 Vasculitis Genetic polymorphisms Vasculitis |
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: https://doi.org/10.3390/jcm11195577 |
It is part of: | Journal of Clinical Medicine, 2022, vol. 11, issue. 19, p. 5577 |
URI: | http://hdl.handle.net/2445/190284 |
Related resource: | https://doi.org/10.3390/jcm11195577 |
ISSN: | 2077-0383 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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