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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 (...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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. |
format | Online Article Text |
id | pubmed-10488110 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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