TY - JOUR
T1 - HLA association with the susceptibility to anti-synthetase syndrome
AU - Remuzgo-Martínez, Sara
AU - Atienza-Mateo, Belén
AU - Ocejo-Vinyals, J. Gonzalo
AU - Pulito-Cueto, Verónica
AU - Prieto-Peña, Diana
AU - Genre, Fernanda
AU - Marquez, Ana
AU - Llorca, Javier
AU - Mora Cuesta, Víctor M.
AU - Fernández, David Iturbe
AU - Riesco, Laura
AU - Ortego-Centeno, Norberto
AU - Gómez, Nair Pérez
AU - Mera, Antonio
AU - Martínez-Barrio, Julia
AU - López-Longo, Francisco Javier
AU - Lera-Gómez, Leticia
AU - Moriano, Clara
AU - Díez, Elvira
AU - Tomero, Eva
AU - Calvo-Alén, Jaime
AU - Romero-Bueno, Fredeswinda
AU - Sanchez-Pernaute, Olga
AU - Nuño, Laura
AU - Bonilla, Gema
AU - Grafia, Ignacio
AU - Prieto-González, Sergio
AU - Narvaez, Javier
AU - Trallero-Araguas, Ernesto
AU - Selva-O'Callaghan, Albert
AU - Gualillo, Oreste
AU - Martín, Javier
AU - Cavagna, Lorenzo
AU - Castañeda, Santos
AU - Cifrian, José M.
AU - Renzoni, Elisabetta A.
AU - López-Mejías, Raquel
AU - González-Gay, Miguel A.
N1 - Funding Information:
This study was partially supported by grants from the Foundation for Research in Rheumatology (FOREUM); SR-M is supported by funds of the RETICS Program [grant number RD16/0012/0009] from the `Instituto de Salud Carlos III´ (ISCIII), co-funded by the European Regional Development Fund (ERDF); BA-M is a recipient of a ‘López Albo’ Post-Residency Programme funded by Servicio Cántabro de Salud; VP-C is supported by a pre-doctoral grant from IDIVAL [grant number PREVAL 18/01]; LL-G is supported by funds of ISCIII, co-funded by ERDF [grant number PI18/00042]; OG is beneficiary of a grant funded by Xunta de Galicia, Consellería de Educación, Universidade e Formación Profesional and Consellería de Economía, Emprego e Industria (GAIN), GPC IN607B2019/10; EAR is partially supported by Versus Arthritis [grant number 20719] and by Scleroderma and Raynaud's UK [grant number BR11]; RL-M is a recipient of a Miguel Servet type I programme fellowship from the ISCIII, co-funded by the European Social Fund (ESF, ‘Investing in your future’) [grant number CP16/00033].
Publisher Copyright:
© 2020 Société française de rhumatologie
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/5
Y1 - 2021/5
N2 - 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.
AB - 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.
KW - Anti-Jo-1 antibodies
KW - Anti-synthetase syndrome
KW - HLA
KW - HLA-B08:01
KW - HLA-DRB103:01
KW - HLA-DRB107:01
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U2 - 10.1016/j.jbspin.2020.105115
DO - 10.1016/j.jbspin.2020.105115
M3 - Article
C2 - 33301929
AN - SCOPUS:85100159324
VL - 88
JO - Revue du Rhumatisme (English Edition)
JF - Revue du Rhumatisme (English Edition)
SN - 1169-8446
IS - 3
M1 - 105115
ER -