HLA association with the susceptibility to anti-synthetase syndrome

Sara Remuzgo-Martínez, Belén Atienza-Mateo, J. Gonzalo Ocejo-Vinyals, Verónica Pulito-Cueto, Diana Prieto-Peña, Fernanda Genre, Ana Marquez, Javier Llorca, Víctor M. Mora Cuesta, David Iturbe Fernández, Laura Riesco, Norberto Ortego-Centeno, Nair Pérez Gómez, Antonio Mera, Julia Martínez-Barrio, Francisco Javier López-Longo, Leticia Lera-Gómez, Clara Moriano, Elvira Díez, Eva TomeroJaime Calvo-Alén, Fredeswinda Romero-Bueno, Olga Sanchez-Pernaute, Laura Nuño, Gema Bonilla, Ignacio Grafia, Sergio Prieto-González, Javier Narvaez, Ernesto Trallero-Araguas, Albert Selva-O'Callaghan, Oreste Gualillo, Javier Martín, Lorenzo Cavagna, Santos Castañeda, José M. Cifrian, Elisabetta A. Renzoni, Raquel López-Mejías, Miguel A. González-Gay

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number105115
JournalJoint Bone Spine
Issue number3
Publication statusPublished - May 2021


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

ASJC Scopus subject areas

  • Rheumatology


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