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

Authors :
Joao Carlos Batista-Liz
Vanesa Calvo-Río
María Sebastián Mora-Gil
Belén Sevilla-Pérez
Ana Márquez
María Teresa Leonardo
Ana Peñalba
Francisco David Carmona
Javier Narvaez
Luis Martín-Penagos
Lara Belmar-Vega
Cristina Gómez-Fernández
Luis Caminal-Montero
Paz Collado
Patricia Quiroga-Colina
Miren Uriarte-Ecenarro
Esteban Rubio
Manuel León Luque
Juan María Blanco-Madrigal
Eva Galíndez-Agirregoikoa
Javier Martín
Santos Castañeda
Miguel Angel González-Gay
Ricardo Blanco
Verónica Pulito-Cueto
Raquel López-Mejías
Source :
International Journal of Molecular Sciences, Vol 24, Iss 17, p 13063 (2023)
Publication Year :
2023
Publisher :
MDPI AG, 2023.

Abstract

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.

Details

Language :
English
ISSN :
14220067 and 16616596
Volume :
24
Issue :
17
Database :
Directory of Open Access Journals
Journal :
International Journal of Molecular Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.23769490ef1a46e7b80c99f9bac43115
Document Type :
article
Full Text :
https://doi.org/10.3390/ijms241713063