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 (...

Descripción completa

Detalles Bibliográficos
Autores: Batista-Liz, J.C., Calvo-Río, V., Sebastián Mora-Gil, M., Sevilla-Pérez, B., Márquez, A., Leonardo, M.T., Peñalba, A., Carmona, F.D., Narvaez, J., Martín-Penagos, L., Belmar-Vega, L., Gómez Fernández, Cristina, Caminal-Montero, L., Collado, P., Quiroga-Colina, P., Uriarte-Ecenarro, M., Rubio, E., Luque, M.L., Blanco-Madrigal, J.M., Galíndez-Agirregoikoa, E., Martín, J., Castañeda, S., González-Gay Mantecón, Miguel Ángel, Blanco, R., Pulito-Cueto, V., López-Mejías, R.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Servizo Galego de Saúde (SERGAS)
Repositorio:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/21755
Acceso en línea:https://portalcientifico.sergas.gal//documentos/6510149c0058624993e2cc49
http://hdl.handle.net/20.500.11940/21755
Access Level:acceso abierto
Palabra clave:Humans
CD11c Antigen
Gene Frequency
Genotype
Glomerulonephritis, IGA
IgA Vasculitis
Nephritis
Polymorphism, Genetic
Immunity, Mucosal
AS Lugo
CHULA
AS Santiago
CHUS
Descripción
Sumario: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.

Similares en LA Referencia