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

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.

 Autoría: Batista Liz J.C., Genre F., Pulito-Cueto V., Remuzgo-Martínez S., Prieto-Peña D., Márquez A., Ortego-Centeno N., Leonardo M.T., Peñalba A., Narváez J., Martín-Penagos L., Belmar-Vega L., Gómez-Fernández C., Miranda-Filloy J.A., Caminal-Montero L., Collado P., De Árgila D., Quiroga-Colina P., Vicente-Rabaneda E.F., Triguero-Martínez A., Rubio E., León Luque M., Blanco-Madrigal J.M., Galíndez-Agirregoikoa E., Martín J., Gualillo O., Blanco R.,

 Fuente: Journal of Clinical Medicine 2022, 11, 5577

 Editorial: Multidisciplinary Digital Publishing Institute (MDPI)

 Año de publicación: 2022

 Nº de páginas: 11

 Tipo de publicación: Artículo de Revista

 DOI: 10.3390/jcm11195577

 ISSN: 2077-0383

 Proyecto español: PI18/00042; PI21/00042

 Url de la publicación: https://doi.org/10.3390/jcm11195577

Autoría

BATISTA LIZ, JOAO CARLOS

FERNANDA GENRE

VERONICA PULITO CUETO

REMUZGO-MARTÍNEZ, SARA

DIANA PRIETO PEÑA

MÁRQUEZ, ANA

ORTEGO-CENTENO, NORBERTO

MARIA TERESA LEONARDO CABELLO

ANA CRISTINA PEÑALBA CITORES

NARVÁEZ, JAVIER

LUIS MARTIN PENAGOS

LARA BELMAR VEGA

CRISTINA GOMEZ FERNANDEZ

MIRANDA-FILLOY, JOSÉ A.

CAMINAL-MONTERO, LUIS

COLLADO, PAZ

ÁRGILA, DIEGO DE

QUIROGA-COLINA, PATRICIA

VICENTE-RABANEDA, ESTHER F.

TRIGUERO-MARTÍNEZ, ANA