BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin‑A vasculitis
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Prieto-Peña, D., Genre, F., Remuzgo-Martínez, S. et al. BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis. Sci Rep 11, 11510 (2021). [https://doi.org/10.1038/s41598-021-91055-z]
SponsorshipEuropean Union FEDER fund RD16/0012/0014; H2020 Programme 734899; Health Ministry; Servicio Cántabro de Salud; Servizo Galego de Saude; European Commission PI18/00042 EC; Research Executive Agency REA; Instituto de Salud Carlos III CP16/00033,PI17/00409 ISCIII; European Social Fund CM20/00006,RD16/0012/0009 ESF; European Regional Development Fund ERDF; Instituto de Investigación Marqués de Valdecilla PREVAL 18/01 IDIVAL; Servicio Gallego de Salud SERGAS
BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immunemediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV.