HLA association with the susceptibility to anti-synthetase syndrome.

Objective: To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). Methods: We conducted the largest immunogenetic HLA-DRB1 and HLA-B study to date in a homogeneous cohort of 168 Caucasian patients with ASSD and 486 ethnically matched healthy controls by se...

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Autores: Remuzgo-Martínez, Sara, Atienza-Mateo, Belén, Ocejo-Vinyals, J. Gonzalo, Pulito-Cueto, Verónica, Prieto-Peña, Diana, Genre, Fernanda, Márquez, Ana, Llorca, Javier, Mora Cuesta, Víctor M., Fernández, David Iturbe, Riesco, Laura, Ortego-Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, López Longo, Francisco Javier, Lera-Gómez, Leticia, Moriano, Clara, Díez, Elvira, Tornero, Eva, Calvo-Alén, Jaime, Romero-Bueno, Fredeswinda, Sánchez-Pernaute, Olga, Nuño, Laura, Bonilla, Gema, Grafia, Ignacio, Prieto-González, Sergio, Narváez, Javier, Trallero-Araguas, Ernesto, Selva-O'Callaghan, Albert, Gualillo, Oreste, Martín, Javier, Cabagna, Lorenzo, Catañeda, Santos, Cifrian, José M., Renzoni, Elizabetta A., López-Mejías, Raquel, González-Gay, Miguel A.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/358806
Acceso en línea:http://hdl.handle.net/10261/358806
Access Level:acceso abierto
Palabra clave:Anti-synthetase syndrome
Anti-Jo-1 antibodies
HLA
HLA-DRB1*03:01
HLA-B*08:01
HLA-DRB1*07:01
Descripción
Sumario:Objective: To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). Methods: We conducted the largest immunogenetic HLA-DRB1 and HLA-B study to date in a homogeneous cohort of 168 Caucasian patients with ASSD and 486 ethnically matched healthy controls by sequencing-based-typing. Results: A statistically significant increase of HLA-DRB1*03:01 and HLA-B*08:01 alleles in patients with ASSD compared to healthy controls was disclosed (26.2% versus 12.2%, P = 1.56E–09, odds ratio–OR [95% confidence interval–CI] = 2.54 [1.84–3.50] and 21.4% versus 5.5%, P = 18.95E–18, OR [95% CI] = 4.73 [3.18–7.05]; respectively). Additionally, HLA-DRB1*07:01 allele was significantly decreased in patients with ASSD compared to controls (9.2% versus 17.5%, P = 0.0003, OR [95% CI] = 0.48 [0.31–0.72]). Moreover, a statistically significant increase of HLA-DRB1*03:01 allele in anti-Jo-1 positive compared to anti-Jo-1 negative patients with ASSD was observed (31.8% versus 15.5%, P = 0.001, OR [95% CI] = 2.54 [1.39–4.81]). Similar findings were observed when HLA carrier frequencies were assessed. The HLA-DRB1*03:01 association with anti-Jo-1 was unrelated to smoking history. No HLA differences in patients with ASSD stratified according to the presence/absence of the most representative non-anti-Jo-1 anti-synthetase autoantibodies (anti-PL-12 and anti-PL-7), arthritis, myositis or interstitial lung disease were observed. Conclusions: Our results support the association of the HLA complex with the susceptibility to ASSD.

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