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Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?

ITGAM–ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (...

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Autores principales: Batista-Liz, Joao Carlos, Calvo-Río, Vanesa, Sebastián Mora-Gil, María, Sevilla-Pérez, Belén, Márquez, Ana, Leonardo, María Teresa, Peñalba, Ana, Carmona, Francisco David, Narvaez, Javier, Martín-Penagos, Luis, Belmar-Vega, Lara, Gómez-Fernández, Cristina, Caminal-Montero, Luis, Collado, Paz, Quiroga-Colina, Patricia, Uriarte-Ecenarro, Miren, Rubio, Esteban, Luque, Manuel León, Blanco-Madrigal, Juan María, Galíndez-Agirregoikoa, Eva, Martín, Javier, Castañeda, Santos, González-Gay, Miguel Angel, Blanco, Ricardo, Pulito-Cueto, Verónica, López-Mejías, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488110/
https://www.ncbi.nlm.nih.gov/pubmed/37685869
http://dx.doi.org/10.3390/ijms241713063
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author Batista-Liz, Joao Carlos
Calvo-Río, Vanesa
Sebastián Mora-Gil, María
Sevilla-Pérez, Belén
Márquez, Ana
Leonardo, María Teresa
Peñalba, Ana
Carmona, Francisco David
Narvaez, Javier
Martín-Penagos, Luis
Belmar-Vega, Lara
Gómez-Fernández, Cristina
Caminal-Montero, Luis
Collado, Paz
Quiroga-Colina, Patricia
Uriarte-Ecenarro, Miren
Rubio, Esteban
Luque, Manuel León
Blanco-Madrigal, Juan María
Galíndez-Agirregoikoa, Eva
Martín, Javier
Castañeda, Santos
González-Gay, Miguel Angel
Blanco, Ricardo
Pulito-Cueto, Verónica
López-Mejías, Raquel
author_facet Batista-Liz, Joao Carlos
Calvo-Río, Vanesa
Sebastián Mora-Gil, María
Sevilla-Pérez, Belén
Márquez, Ana
Leonardo, María Teresa
Peñalba, Ana
Carmona, Francisco David
Narvaez, Javier
Martín-Penagos, Luis
Belmar-Vega, Lara
Gómez-Fernández, Cristina
Caminal-Montero, Luis
Collado, Paz
Quiroga-Colina, Patricia
Uriarte-Ecenarro, Miren
Rubio, Esteban
Luque, Manuel León
Blanco-Madrigal, Juan María
Galíndez-Agirregoikoa, Eva
Martín, Javier
Castañeda, Santos
González-Gay, Miguel Angel
Blanco, Ricardo
Pulito-Cueto, Verónica
López-Mejías, Raquel
author_sort Batista-Liz, Joao Carlos
collection PubMed
description ITGAM–ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM–ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis.
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spelling pubmed-104881102023-09-09 Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis? Batista-Liz, Joao Carlos Calvo-Río, Vanesa Sebastián Mora-Gil, María Sevilla-Pérez, Belén Márquez, Ana Leonardo, María Teresa Peñalba, Ana Carmona, Francisco David Narvaez, Javier Martín-Penagos, Luis Belmar-Vega, Lara Gómez-Fernández, Cristina Caminal-Montero, Luis Collado, Paz Quiroga-Colina, Patricia Uriarte-Ecenarro, Miren Rubio, Esteban Luque, Manuel León Blanco-Madrigal, Juan María Galíndez-Agirregoikoa, Eva Martín, Javier Castañeda, Santos González-Gay, Miguel Angel Blanco, Ricardo Pulito-Cueto, Verónica López-Mejías, Raquel Int J Mol Sci Article ITGAM–ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM–ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis. MDPI 2023-08-22 /pmc/articles/PMC10488110/ /pubmed/37685869 http://dx.doi.org/10.3390/ijms241713063 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Batista-Liz, Joao Carlos
Calvo-Río, Vanesa
Sebastián Mora-Gil, María
Sevilla-Pérez, Belén
Márquez, Ana
Leonardo, María Teresa
Peñalba, Ana
Carmona, Francisco David
Narvaez, Javier
Martín-Penagos, Luis
Belmar-Vega, Lara
Gómez-Fernández, Cristina
Caminal-Montero, Luis
Collado, Paz
Quiroga-Colina, Patricia
Uriarte-Ecenarro, Miren
Rubio, Esteban
Luque, Manuel León
Blanco-Madrigal, Juan María
Galíndez-Agirregoikoa, Eva
Martín, Javier
Castañeda, Santos
González-Gay, Miguel Angel
Blanco, Ricardo
Pulito-Cueto, Verónica
López-Mejías, Raquel
Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
title Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
title_full Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
title_fullStr Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
title_full_unstemmed Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
title_short Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
title_sort mucosal immune defence gene polymorphisms as relevant players in the pathogenesis of iga vasculitis?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488110/
https://www.ncbi.nlm.nih.gov/pubmed/37685869
http://dx.doi.org/10.3390/ijms241713063
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