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Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis

AuthorsGenre, F.; Remuzgo-Martínez, S.; Prieto-Peña, D.; Atienza-Mateo, B.; Pulito-Cueto, Verónica; Llorca, J.; Sevilla-Pérez, B.; Ortego-Centeno, N.; Lera-Gómez, L.; Leonardo, M.T.; Peñalba, A.; Cabero, M.J.; Martín-Penagos, L.; Miranda-Filloy, J. A.; Navas Parejo, A.; Sánchez Pérez, J.; de Argila, D.; Rubio, E.; León Luque, M.; Blanco-Madrigal, J.M.; Galíndez-Agirregoikoa, E.; Blanco, R.; Gualillo, O.; Martín, J.; Castañeda, S.; González-Gay, M. A.; López-Mejías, Raquel
Issue Date2020
PublisherPacini Editore
CitationClinical and Experimental Rheumatology 38: 182- 187 (2020)
AbstractOBJECTIVES: Interferon regulatory factor 5 (IRF5) is a major regulator of type I interferon induction and is also critical to produce pro-inflammatory cytokines. An influence of IRF5 genetic variants on the increased risk of immune-mediated diseases has been described. Accordingly, we aimed to evaluate the implication of IRF5 in the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. METHODS: Three tag genetic variants (rs2004640, rs2070197 and rs10954213), representative of 3 different haplotype blocks within IRF5, were genotyped in 372 Caucasian patients with IgAV and 876 sex and ethnically matched healthy controls by TaqMan assays. RESULTS: No significant differences in the genotype and allele frequencies between patients with IgAV and healthy controls were observed when each IRF5 polymorphism was evaluated independently. Likewise, no significant differences between patients with IgAV and healthy controls were found when we assessed the three IRF5 polymorphisms combined, conforming haplotypes. In addition, there were no significant differences in genotype, allele and haplotype frequencies of IRF5 when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. CONCLUSIONS: Our results do not support an influence of IRF5 on the pathogenesis of IgAV.
Identifiersissn: 0392-856X
e-issn: 1593-098X
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