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2022-09-22

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cc by (c) Batista Liz, Joao Carlos et al., 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/190284

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

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https://doi.org/10.3390/jcm11195577

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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.

Matèries

Polimorfisme genètic, Vasculitis

Matèries (anglès)

Genetic polymorphisms, Vasculitis

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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LIZ, Joao carlos batista, 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. IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms. _Journal of Clinical Medicine_. 2022. Vol. 11, núm. 19, pàgs. 5577. [consulta: 24 de gener de 2026]. ISSN: 2077-0383. [Disponible a: https://hdl.handle.net/2445/190284]

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