| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2045-2322 |
| DOI: |
10.1038/s41598-021-91055-z |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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