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Mucosal immune defence gene polymorphisms as relevant players in the pathogenesis of IgA vasculitis?

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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: International Journal of Molecular Sciences, 2023, 24, 13063

 Año de publicación: 2023

Nº de páginas: 14

Tipo de publicación: Artículo de Revista

 DOI: 10.3390/ijms241713063

ISSN: 1661-6596,1422-0067

Autores/as

BATISTA-LIZ, JOAO CARLOS

VANESA CALVO DEL RIO

SEBASTIÁN MORA-GIL, MARÍA

SEVILLA-PÉREZ, BELÉN

MÁRQUEZ, ANA

MARIA TERESA LEONARDO CABELLO

ANA CRISTINA PEÑALBA CITORES

CARMONA, FANCISCO DAVID

NARVÁEZ, JAVIER

LUIS MARTIN PENAGOS

LARA BELMAR VEGA

CAMINAL-MONTERO, LUIS

COLLADO, PAZ

QUIROGA-COLINA, PATRICIA

URIARTE-ECENARRO, MIREN