@article{10902/39101,
year = {2025},
url = {https://hdl.handle.net/10902/39101},
abstract = {Introduction: Immunoglobulin A vasculitis (IgAV) is an inflammatory disease
mediated by B cells. Nuclear factor kappa B (NF-kB) is essential for B-cell
development and maturation and plays a key role in autoimmunity and
inflammation. In particular, the NF-kB canonical activation pathway genes
NFKB1 (encoding NF-kB1) and NFKBIA (encoding NF-kB inhibitor alpha) have
been identified as risk loci for several immune-mediated diseases, but their role in
IgAV remains unclear. This study aimed to determine whether NFKB1 and NFKBIA
represent novel genetic risk factors for IgAV pathogenesis.
Methods: The NFKB1 promoter variant −94 ins/del ATTG (rs28362491), six tag
NFKB1 polymorphisms (rs77830930, rs1598856, rs7340881, rs4648055,
rs4648090, and rs230547), and seven tag NFKBIA variants (rs3138055, rs696,
rs1022714, rs2233419, rs2233415, rs1050851, and rs1957106) were genotyped in
343 Caucasian IgAV patients and 764 healthy, ethnically matched controls using
TaqMan probes. Patients were stratified according to age at disease onset and
the presence or absence of renal, articular, and gastrointestinal manifestations.
Genotype, allele, and haplotype frequencies were compared between patients
and controls, as well as across clinical subgroups.
Results: No statistically significant differences were found in genotype or allele
frequencies of NFKB1 or NFKBIA between IgAV patients and healthy controls.
Likewise, haplotype frequencies of both genes were similar across groups. No
associations were observed when patients were stratified by clinical features,
including renal involvement, age at onset, or articular/gastrointestinal symptoms.
Conclusion: Our findings do not support a major role for the NFKB1 or NFKBIA
variants studied in IgAV susceptibility or severity. These results suggest that if NFkB signaling contributes to IgAV pathogenesis, it likely involves other
biological mechanisms.},
organization = {The author(s) declare financial support was received for the
research and/or publication of this article. This research was funded
by European Union FEDER funds and “Fondo de Investigaciones
Sanitarias” from “Instituto de Salud Carlos III” (ISCIII, Health
Ministry, Spain), grant numbers PI21/00042 and PI24/00382. JCBL. is a recipient of a PFIS program fellowship from the ISCIII, cofunded by the European Social Fund (‘Investing in your future’), grant number FI22/00020. VP-C received funding from IDIVAL, grant numbers NVAL23/02 and INNVAL24/10. RL-M is a recipient of a Miguel Servet type II program fellowship from the ISCIII, cofunded by ESF (“Investing in your future”), grant number CPII21/00004.},
publisher = {Frontiers Research Foundation},
publisher = {Frontiers in Immunology, 2025, 16, 1692908},
title = {The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis},
author = {Batista Liz, Joao Carlos and Sebastián Mora Gil, María and Renuncio García, Mónica and Leonardo Cabello, María Teresa and Peñalba Citores, Ana Cristina and Gabriel Odonnell, Ligia and Sánchez, Rafael Gálvez and Martín Penagos, Luis and Narvaez, Javier and Sevilla Pérez, Belén and Ríos Fernández, Raquel and Callejas Rubio, José Luis and Caminal Montero, Luis and Collado, Paz and Pérez Venegas, José Javier and Rodríguez Valls, María José and De Árgila, Diego and Quiroga Colina, Patricia and Vicente Rabaneda, Esther Francisca and Ocejo Viñals, Javier Gonzalo},
}