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Title: HLA association with the susceptibility to anti-synthetase syndrome
Author: Remuzgo Martínez, Sara
Atienza Mateo, Belén
Ocejo Vinyals, J. Gonzalo
Pulito Cueto, Verónica
Prieto Peña, Diana
Genre, Fernanda
Marquez, Ana
Llorca, Javier
Mora Cuesta, Víctor M.
Iturbe Fernández, David
Riesco, Laura
Ortego Centeno, Norberto
Pérez Gómez, Nair
Mera, Antonio
Martínez Barrio, Julia
López Iongo, Francisco Javier
Lera Gómez, Leticia
Moriano, Clara
Díez, Elvira
Tomero, Eva
Calvo Alén, Jaime
Romero Bueno, Fredeswinda
Sanchez Pernaute, Olga
Nuño, Laura
Bonilla, Gema
Grafia, Ignacio
Prieto González, Sergio
Narváez García, Francisco Javier
Trallero Araguas, Ernesto
Selva O’callaghan, Albert
Gualillo, Oreste
Martín, Javier
Cavagna, Lorenzo
Castañeda, Santos
Cifrian, José M.
Renzoni, Elisabetta A.
López Mejías, Raquel
González Gay, Miguel A.
Keywords: Malalties autoimmunitàries
Malalties hereditàries
Autoimmune diseases
Genetic diseases
Issue Date: 1-May-2021
Publisher: Elsevier BV
Abstract: 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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It is part of: Joint Bone Spine, 2021, vol. 88, num. 3, p. 105115
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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