Publication:
HLA association with the susceptibility to anti-synthetase syndrome.

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Date

2020-11-13

Authors

Remuzgo-Martinez, Sara
Atienza-Mateo, Belen
Ocejo-Vinyals, J Gonzalo
Pulito-Cueto, Veronica
Prieto-Peña, Diana
Genre, Fernanda
Marquez, Ana
Llorca, Javier
Mora Cuesta, Victor M
Fernandez, David Iturbe

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Elsevier Masson
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Abstract

To investigate the human leukocyte antigen (HLA) association with anti-synthetase syndrome (ASSD). 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. 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. Our results support the association of the HLA complex with the susceptibility to ASSD.

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Alleles
Antibodies, Antinuclear
Autoantibodies
Case-Control Studies
Genetic Predisposition to Disease
HLA Antigens
HLA-DRB1 Chains
Humans
Ligases
Myositis

DeCS Terms

Predisposición genética a la enfermedad
Miositis
Ligasas
Humanos
Estudios de casos y controles
Autoanticuerpos
Cadenas HLA-DRB1
Antígenos HLA
Anticuerpos antinucleares
Alelos

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Keywords

Anti-Jo-1 antibodies, Anti-synthetase syndrome, HLA, HLA-B*08:01, HLA-DRB1*03:01, HLA-DRB1*07:01

Citation

Remuzgo-Martínez S, Atienza-Mateo B, Ocejo-Vinyals JG, Pulito-Cueto V, Prieto-Peña D, Genre F, et al. HLA association with the susceptibility to anti-synthetase syndrome. Joint Bone Spine. 2021 May;88(3):105115.