RT Journal Article
T1 IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms.
A1 Batista Liz, Joao Carlos
A1 Genre, Fernanda
A1 Pulito-Cueto, Verónica
A1 Remuzgo-Martínez, Sara
A1 Prieto-Peña, Diana
A1 Márquez, Ana
A1 Ortego-Centeno, Norberto
A1 Leonardo, María Teresa
A1 Peñalba, Ana
A1 Narváez, Javier
A1 Martín-Penagos, Luis
A1 Belmar-Vega, Lara
A1 Gómez-Fernández, Cristina
A1 Miranda-Filloy, José A
A1 Caminal-Montero, Luis
A1 Collado, Paz
A1 De Árgila, Diego
A1 Quiroga-Colina, Patricia
A1 Vicente-Rabaneda, Esther F
A1 Triguero-Martínez, Ana
A1 Rubio, Esteban
A1 León Luque, Manuel
A1 Blanco-Madrigal, Juan María
A1 Galíndez-Agirregoikoa, Eva
A1 Martín, Javier
A1 Gualillo, Oreste
A1 Blanco, Ricardo
A1 Castañeda, Santos
A1 González-Gay, Miguel A
A1 López-Mejías, Raquel
K1 BANK1
K1 BLK
K1 CD40
K1 Henoch–Schönlein purpura
K1 IgA vasculitis
K1 polymorphisms
AB 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.
SN 2077-0383
YR 2022
FD 2022-09-22
LK http://hdl.handle.net/10668/21348
UL http://hdl.handle.net/10668/21348
LA en
DS RISalud
RD Apr 10, 2025