IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms
Metadatos
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MDPI
Materia
IgA vasculitis Henoch-Schönlein purpura CD40 BLK BANK1 Polymorphisms
Date
2022-09-22Referencia bibliográfica
Batista Liz, J.C... [et al.]. IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms. J. Clin. Med. 2022, 11, 5577. [https://doi.org/10.3390/jcm11195577]
Patrocinador
European Commission; Instituto de Salud Carlos III" (ISCIII, Health Ministry, Spain) PI18/00042 PI21/00042 Instituto de Salud Carlos III; European Social Fund (ESF) CM20/00006; RICORS Program from ISCIII; European Commission RD21/0002/0025; RETICS Program (ISCIII) RD16/0012/0009; RETICS Program (European Regional Development Fund (ERDF) RD16/0012/0009; European Union FEDER fund RD16/0012/0014 PI17/00409; Research Executive Agency (REA) of the European Union 734899; Miguel Servet type II program fellowship from the ISCIII; ESF ("Investing in your future") CPII21/00004Résumé
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.