BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis
Abstract BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune...
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2021
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oai:doaj.org-article:cca02dff696e45aaac327228db5c45bf2021-12-02T17:50:41ZBAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis10.1038/s41598-021-91055-z2045-2322https://doaj.org/article/cca02dff696e45aaac327228db5c45bf2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-91055-zhttps://doaj.org/toc/2045-2322Abstract BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV.Diana Prieto-PeñaFernanda GenreSara Remuzgo-MartínezVerónica Pulito-CuetoBelén Atienza-MateoJavier LlorcaBelén Sevilla-PérezNorberto Ortego-CentenoLeticia Lera-GómezMaría Teresa LeonardoAna PeñalbaJavier NarváezLuis Martín-PenagosEmilio RodrigoJosé A. Miranda-FilloyLuis Caminal-MonteroPaz ColladoJavier Sánchez PérezDiego de ArgilaEsteban RubioManuel León LuqueJuan María Blanco-MadrigalEva Galíndez-AgirregoikoaOreste GualilloJavier MartínSantos CastañedaRicardo BlancoMiguel A. González-GayRaquel López-MejíasNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021) |
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Medicine R Science Q Diana Prieto-Peña Fernanda Genre Sara Remuzgo-Martínez Verónica Pulito-Cueto Belén Atienza-Mateo Javier Llorca Belén Sevilla-Pérez Norberto Ortego-Centeno Leticia Lera-Gómez María Teresa Leonardo Ana Peñalba Javier Narváez Luis Martín-Penagos Emilio Rodrigo José A. Miranda-Filloy Luis Caminal-Montero Paz Collado Javier Sánchez Pérez Diego de Argila Esteban Rubio Manuel León Luque Juan María Blanco-Madrigal Eva Galíndez-Agirregoikoa Oreste Gualillo Javier Martín Santos Castañeda Ricardo Blanco Miguel A. González-Gay Raquel López-Mejías BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis |
| description |
Abstract BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV. |
| format |
article |
| author |
Diana Prieto-Peña Fernanda Genre Sara Remuzgo-Martínez Verónica Pulito-Cueto Belén Atienza-Mateo Javier Llorca Belén Sevilla-Pérez Norberto Ortego-Centeno Leticia Lera-Gómez María Teresa Leonardo Ana Peñalba Javier Narváez Luis Martín-Penagos Emilio Rodrigo José A. Miranda-Filloy Luis Caminal-Montero Paz Collado Javier Sánchez Pérez Diego de Argila Esteban Rubio Manuel León Luque Juan María Blanco-Madrigal Eva Galíndez-Agirregoikoa Oreste Gualillo Javier Martín Santos Castañeda Ricardo Blanco Miguel A. González-Gay Raquel López-Mejías |
| author_facet |
Diana Prieto-Peña Fernanda Genre Sara Remuzgo-Martínez Verónica Pulito-Cueto Belén Atienza-Mateo Javier Llorca Belén Sevilla-Pérez Norberto Ortego-Centeno Leticia Lera-Gómez María Teresa Leonardo Ana Peñalba Javier Narváez Luis Martín-Penagos Emilio Rodrigo José A. Miranda-Filloy Luis Caminal-Montero Paz Collado Javier Sánchez Pérez Diego de Argila Esteban Rubio Manuel León Luque Juan María Blanco-Madrigal Eva Galíndez-Agirregoikoa Oreste Gualillo Javier Martín Santos Castañeda Ricardo Blanco Miguel A. González-Gay Raquel López-Mejías |
| author_sort |
Diana Prieto-Peña |
| title |
BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis |
| title_short |
BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis |
| title_full |
BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis |
| title_fullStr |
BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis |
| title_full_unstemmed |
BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis |
| title_sort |
baff, april and baffr on the pathogenesis of immunoglobulin-a vasculitis |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/cca02dff696e45aaac327228db5c45bf |
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