HLA association with the susceptibility to anti-synthetase syndrome - 29/04/21

Doi : 10.1016/j.jbspin.2020.105115

Sara Remuzgo-Martínez ^a,^{^{1
These authors contributed equally to this work.}}, Belén Atienza-Mateo ^a,^b,^{^{1
These authors contributed equally to this work.}}, J. Gonzalo Ocejo-Vinyals ^c,^{^{1
These authors contributed equally to this work.}}, Verónica Pulito-Cueto ^a, Diana Prieto-Peña ^a, Fernanda Genre ^a, Ana Marquez ^d,^e, Javier Llorca ^f, Víctor M. Mora Cuesta ^a, David Iturbe Fernández ^a, Laura Riesco ^c, Norberto Ortego-Centeno ^e, Nair Pérez Gómez ^g, Antonio Mera ^g, Julia Martínez-Barrio ^h, Francisco Javier López-Longo ^h, Leticia Lera-Gómez ^a, Clara Moriano ⁱ, Elvira Díez ⁱ, Eva Tomero ^j, Jaime Calvo-Alén ^k, Fredeswinda Romero-Bueno ^l, Olga Sanchez-Pernaute ^l, Laura Nuño ^m, Gema Bonilla ^m, Ignacio Grafia ⁿ, Sergio Prieto-González ⁿ, Javier Narvaez ^o, Ernesto Trallero-Araguas ^p, Albert Selva-O’Callaghan ^p, Oreste Gualillo ^q, Javier Martín ^d, Lorenzo Cavagna ^r, Santos Castañeda ^j, José M. Cifrian ^a,^s, Elisabetta A. Renzoni ^t, Raquel López-Mejías ^a,^{^{2
These authors shared senior authorship in this study.},}^⁎ , Miguel A. González-Gay ^a,^s,^u,^{^{2
These authors shared senior authorship in this study.},}^⁎
^a Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain
^b ‘López Albo’ post-residency programme, Hospital Universitario Marqués de Valdecilla, Santander, Spain
^c Department of Immunology, Hospital Universitario Marqués de Valdecilla, Santander, Spain
^d Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Granada, Spain
^e Systemic Autoimmune Disease Unit, Hospital Universitario Clínico San Cecilio, Instituto de Investigación Biosanitaria ibs. GRANADA, Granada, Spain
^f Department of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain
^g Division of Rheumatology, Instituto de Investigación Sanitaria-Hospital Clínico Universitario de Santiago, Santiago de Compostela, A Coruña, Spain
^h Department of Rheumatology, Hospital General Universitario Gregorio-Marañón, Madrid, Spain
ⁱ Division of Rheumatology, Complejo Asistencial Universitario de León, León, Spain
^j Department of Rheumatology, Hospital Universitario de la Princesa, Madrid, Spain
^k Rheumatology Division, Hospital Universitario Araba, Vitoria/Gasteiz, Alava, Spain
^l Rheumatology Department, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain
^m Rheumatology Department, Hospital Universitario La Paz, Madrid, Spain
ⁿ Department of Autoimmune Diseases, Hospital Clínico de Barcelona, Universidad de Barcelona, Barcelona, Spain
^o Rheumatology Department, Hospital Universitario de Bellvitge, Barcelona, Spain
^p Department of Systemic Autoimmune Diseases, Hospital Universitario Valle de Hebron, Barcelona, Spain
^q SERGAS (Servizo Galego de Saude) and IDIS (Instituto de Investigación Sanitaria de Santiago), NEIRID Lab (Neuroendocrine Interactions in Rheumatology and Inflammatory Diseases), Research Laboratory 9, Santiago University Clinical Hospital, Santiago de Compostela, Spain
^r Division of Rheumatology, University and IRCCS Policlinico S. Matteo Foundation, Pavia, Italy
^s School of Medicine, Universidad de Cantabria, Santander, Spain
^t Interstitial Lung Disease Unit, Royal Brompton Hospital, Imperial College, London, United Kingdom
^u Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

^⁎Corresponding author.^⁎⁎Co-corresponding author at: Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marqués de Valdecilla, avenida Cardenal Herrera Oria s/n, Lab. 201/202, 39011 Santander, Spain.Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marqués de Valdecillaavenida Cardenal Herrera Oria s/n, Lab. 201/202Santander39011Spain

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Highlights

•	HLA typing may help to identify patients with ASSD.
•	HLA-DRB103:01* and HLA-B108:01* are predisposition markers of ASSD.
•	HLA-DRB107:01* is a protective allele against ASSD.
•	HLA-DRB103:01* increases the risk of developing anti-Jo-1 autoantibodies in ASSD.
•	Smoking does not seem to influence anti-Jo-1 antibody positivity in ASSD.

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

Plan

Introduction

Methods

Study population

HLA-DRB1 and HLA-B Typing

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Article 105115- mai 2021 Retour au numéro

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HLA association with the susceptibility to anti-synthetase syndrome - 29/04/21

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