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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.
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
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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
CRISTINA GOMEZ FERNANDEZ
CAMINAL-MONTERO, LUIS
COLLADO, PAZ
QUIROGA-COLINA, PATRICIA
URIARTE-ECENARRO, MIREN
RUBIO, ESTEBAN
MIGUEL ANGEL GONZALEZ-GAY MANTECON
RICARDO BLANCO ALONSO
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