The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis

Batista Liz, Joao Carlos; Sebastián Mora Gil, María; Renuncio García, Mónica; Leonardo Cabello, María Teresa; Peñalba Citores, Ana Cristina; Gabriel Odonnell, Ligia; Sánchez, Rafael Gálvez; Martín Penagos, Luis; Narvaez, Javier; Sevilla Pérez, Belén; Ríos Fernández, Raquel; Callejas Rubio, José Luis; Caminal Montero, Luis; Collado, Paz; Pérez Venegas, José Javier; Rodríguez Valls, María José; De Árgila, Diego; Quiroga Colina, Patricia; Vicente Rabaneda, Esther Francisca; Ocejo-Vinyals, Javier Gonzalo

The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis

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...

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Autores:	Batista Liz, Joao Carlos, Sebastián Mora Gil, María, Renuncio García, Mónica, Leonardo Cabello, María Teresa, Peñalba Citores, Ana Cristina, Gabriel Odonnell, Ligia, Sánchez, Rafael Gálvez, Martín Penagos, Luis, Narvaez, Javier, Sevilla Pérez, Belén, Ríos Fernández, Raquel, Callejas Rubio, José Luis, Caminal Montero, Luis, Collado, Paz, Pérez Venegas, José Javier, Rodríguez Valls, María José, De Árgila, Diego, Quiroga Colina, Patricia, Vicente Rabaneda, Esther Francisca, Ocejo-Vinyals, Javier Gonzalo
Tipo de recurso:	artículo
Fecha de publicación:	2025
País:	España
Institución:	Universidad de Cantabria (UC)
Repositorio:	UCrea Repositorio Abierto de la Universidad de Cantabria
Idioma:	inglés
OAI Identifier:	oai:repositorio.unican.es:10902/39101
Acceso en línea:	https://hdl.handle.net/10902/39101
Access Level:	acceso abierto
Palabra clave:	Biomarkers Immunoglobulin A vasculitis (IgAV) NF-kappa B (NF-kB) NFKB1 NFKBIA

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spelling	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitisBatista Liz, Joao CarlosSebastián Mora Gil, MaríaRenuncio García, MónicaLeonardo Cabello, María TeresaPeñalba Citores, Ana CristinaGabriel Odonnell, LigiaSánchez, Rafael GálvezMartín Penagos, LuisNarvaez, JavierSevilla Pérez, BelénRíos Fernández, RaquelCallejas Rubio, José LuisCaminal Montero, LuisCollado, PazPérez Venegas, José JavierRodríguez Valls, María JoséDe Árgila, DiegoQuiroga Colina, PatriciaVicente Rabaneda, Esther FranciscaOcejo-Vinyals, Javier GonzaloBiomarkersImmunoglobulin A vasculitis (IgAV)NF-kappa B (NF-kB)NFKB1NFKBIAIntroduction: 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.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.Frontiers Research FoundationUniversidad de Cantabria20252025-01-01journal articlehttp://purl.org/coar/resource_type/c_6501NAhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43info:eu-repo/semantics/articlehttps://hdl.handle.net/10902/39101Frontiers in Immunology, 2025, 16, 1692908reponame:UCrea Repositorio Abierto de la Universidad de Cantabriainstname:Universidad de Cantabria (UC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositorio.unican.es:10902/391012026-06-02T12:39:31Z
dc.title.none.fl_str_mv	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis
title	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis
spellingShingle	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis Batista Liz, Joao Carlos Biomarkers Immunoglobulin A vasculitis (IgAV) NF-kappa B (NF-kB) NFKB1 NFKBIA
title_short	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis
title_full	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis
title_fullStr	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis
title_full_unstemmed	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis
title_sort	The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis
dc.creator.none.fl_str_mv	Batista Liz, Joao Carlos Sebastián Mora Gil, María Renuncio García, Mónica Leonardo Cabello, María Teresa Peñalba Citores, Ana Cristina Gabriel Odonnell, Ligia Sánchez, Rafael Gálvez Martín Penagos, Luis Narvaez, Javier Sevilla Pérez, Belén Ríos Fernández, Raquel Callejas Rubio, José Luis Caminal Montero, Luis Collado, Paz Pérez Venegas, José Javier Rodríguez Valls, María José De Árgila, Diego Quiroga Colina, Patricia Vicente Rabaneda, Esther Francisca Ocejo-Vinyals, Javier Gonzalo
author	Batista Liz, Joao Carlos
author_facet	Batista Liz, Joao Carlos Sebastián Mora Gil, María Renuncio García, Mónica Leonardo Cabello, María Teresa Peñalba Citores, Ana Cristina Gabriel Odonnell, Ligia Sánchez, Rafael Gálvez Martín Penagos, Luis Narvaez, Javier Sevilla Pérez, Belén Ríos Fernández, Raquel Callejas Rubio, José Luis Caminal Montero, Luis Collado, Paz Pérez Venegas, José Javier Rodríguez Valls, María José De Árgila, Diego Quiroga Colina, Patricia Vicente Rabaneda, Esther Francisca Ocejo-Vinyals, Javier Gonzalo
author_role	author
author2	Sebastián Mora Gil, María Renuncio García, Mónica Leonardo Cabello, María Teresa Peñalba Citores, Ana Cristina Gabriel Odonnell, Ligia Sánchez, Rafael Gálvez Martín Penagos, Luis Narvaez, Javier Sevilla Pérez, Belén Ríos Fernández, Raquel Callejas Rubio, José Luis Caminal Montero, Luis Collado, Paz Pérez Venegas, José Javier Rodríguez Valls, María José De Árgila, Diego Quiroga Colina, Patricia Vicente Rabaneda, Esther Francisca Ocejo-Vinyals, Javier Gonzalo
author2_role	author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Universidad de Cantabria
dc.subject.none.fl_str_mv	Biomarkers Immunoglobulin A vasculitis (IgAV) NF-kappa B (NF-kB) NFKB1 NFKBIA
topic	Biomarkers Immunoglobulin A vasculitis (IgAV) NF-kappa B (NF-kB) NFKB1 NFKBIA
description	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.
publishDate	2025
dc.date.none.fl_str_mv	2025 2025-01-01
dc.type.none.fl_str_mv	journal article http://purl.org/coar/resource_type/c_6501 NA http://purl.org/coar/version/c_be7fb7dd8ff6fe43
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://hdl.handle.net/10902/39101
url	https://hdl.handle.net/10902/39101
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.publisher.none.fl_str_mv	Frontiers Research Foundation
publisher.none.fl_str_mv	Frontiers Research Foundation
dc.source.none.fl_str_mv	Frontiers in Immunology, 2025, 16, 1692908 reponame:UCrea Repositorio Abierto de la Universidad de Cantabria instname:Universidad de Cantabria (UC)
instname_str	Universidad de Cantabria (UC)
reponame_str	UCrea Repositorio Abierto de la Universidad de Cantabria
collection	UCrea Repositorio Abierto de la Universidad de Cantabria
repository.name.fl_str_mv
repository.mail.fl_str_mv
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The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis

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