Remuzgo-Martinez, SaraAtienza-Mateo, BelenOcejo-Vinyals, J GonzaloPulito-Cueto, VeronicaPrieto-Peña, DianaGenre, FernandaMarquez, AnaLlorca, JavierMora Cuesta, Victor MFernandez, David IturbeRiesco, LauraOrtego-Centeno, NorbertoGomez, Nair PerezMera, AntonioMartinez-Barrio, JuliaLopez-Longo, Francisco JavierLera-Gomez, LeticiaMoriano, ClaraDiez, ElviraTomero, EvaCalvo-Alen, JaimeRomero-Bueno, FredeswindaSanchez-Pernaute, OlgaNuño, LauraBonilla, GemaGrafia, IgnacioPrieto-Gonzalez, SergioNarvaez, JavierTrallero-Araguas, ErnestoSelva-O'Callaghan, AlbertGualillo, OresteMartin, JavierCavagna, LorenzoCastañeda, SantosCifrian, Jose MRenzoni, Elisabetta ALopez-Mejias, RaquelGonzalez-Gay, Miguel A2023-02-092023-02-092020-11-13Remuzgo-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.http://hdl.handle.net/10668/16769To 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.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Anti-Jo-1 antibodiesAnti-synthetase syndromeHLAHLA-B*08:01HLA-DRB1*03:01HLA-DRB1*07:01AllelesAntibodies, AntinuclearAutoantibodiesCase-Control StudiesGenetic Predisposition to DiseaseHLA AntigensHLA-DRB1 ChainsHumansLigasesMyositisresearch article33301929open accessPredisposición genética a la enfermedadMiositisLigasasHumanosEstudios de casos y controlesAutoanticuerposCadenas HLA-DRB1Antígenos HLAAnticuerpos antinuclearesAlelos10.1016/j.jbspin.2020.1051151778-7254https://doi.org/10.1016/j.jbspin.2020.105115