PMID- 33301929 OWN - NLM STAT- MEDLINE DCOM- 20210625 LR - 20240306 IS - 1778-7254 (Electronic) IS - 1297-319X (Linking) VI - 88 IP - 3 DP - 2021 May TI - HLA association with the susceptibility to anti-synthetase syndrome. PG - 105115 LID - S1297-319X(20)30222-0 [pii] LID - 10.1016/j.jbspin.2020.105115 [doi] 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. CI - Copyright (c) 2020 Societe francaise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved. FAU - Remuzgo-Martinez, Sara AU - Remuzgo-Martinez S AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Atienza-Mateo, Belen AU - Atienza-Mateo B AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain; 'Lopez Albo' post-residency programme, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Ocejo-Vinyals, J Gonzalo AU - Ocejo-Vinyals JG AD - Department of Immunology, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Pulito-Cueto, Veronica AU - Pulito-Cueto V AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Prieto-Pena, Diana AU - Prieto-Pena D AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Genre, Fernanda AU - Genre F AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Marquez, Ana AU - Marquez A AD - Instituto de Parasitologia y Biomedicina 'Lopez-Neyra', CSIC, PTS Granada, Granada, Spain; Systemic Autoimmune Disease Unit, Hospital Universitario Clinico San Cecilio, Instituto de Investigacion Biosanitaria ibs. GRANADA, Granada, Spain. FAU - Llorca, Javier AU - Llorca J AD - Department of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, and CIBER Epidemiologia y Salud Publica (CIBERESP), IDIVAL, Santander, Spain. FAU - Mora Cuesta, Victor M AU - Mora Cuesta VM AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Fernandez, David Iturbe AU - Fernandez DI AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Riesco, Laura AU - Riesco L AD - Department of Immunology, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Ortego-Centeno, Norberto AU - Ortego-Centeno N AD - Systemic Autoimmune Disease Unit, Hospital Universitario Clinico San Cecilio, Instituto de Investigacion Biosanitaria ibs. GRANADA, Granada, Spain. FAU - Gomez, Nair Perez AU - Gomez NP AD - Division of Rheumatology, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, A Coruna, Spain. FAU - Mera, Antonio AU - Mera A AD - Division of Rheumatology, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, A Coruna, Spain. FAU - Martinez-Barrio, Julia AU - Martinez-Barrio J AD - Department of Rheumatology, Hospital General Universitario Gregorio-Maranon, Madrid, Spain. FAU - Lopez-Longo, Francisco Javier AU - Lopez-Longo FJ AD - Department of Rheumatology, Hospital General Universitario Gregorio-Maranon, Madrid, Spain. FAU - Lera-Gomez, Leticia AU - Lera-Gomez L AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. FAU - Moriano, Clara AU - Moriano C AD - Division of Rheumatology, Complejo Asistencial Universitario de Leon, Leon, Spain. FAU - Diez, Elvira AU - Diez E AD - Division of Rheumatology, Complejo Asistencial Universitario de Leon, Leon, Spain. FAU - Tomero, Eva AU - Tomero E AD - Department of Rheumatology, Hospital Universitario de la Princesa, Madrid, Spain. FAU - Calvo-Alen, Jaime AU - Calvo-Alen J AD - Rheumatology Division, Hospital Universitario Araba, Vitoria/Gasteiz, Alava, Spain. FAU - Romero-Bueno, Fredeswinda AU - Romero-Bueno F AD - Rheumatology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain. FAU - Sanchez-Pernaute, Olga AU - Sanchez-Pernaute O AD - Rheumatology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain. FAU - Nuno, Laura AU - Nuno L AD - Rheumatology Department, Hospital Universitario La Paz, Madrid, Spain. FAU - Bonilla, Gema AU - Bonilla G AD - Rheumatology Department, Hospital Universitario La Paz, Madrid, Spain. FAU - Grafia, Ignacio AU - Grafia I AD - Department of Autoimmune Diseases, Hospital Clinico de Barcelona, Universidad de Barcelona, Barcelona, Spain. FAU - Prieto-Gonzalez, Sergio AU - Prieto-Gonzalez S AD - Department of Autoimmune Diseases, Hospital Clinico de Barcelona, Universidad de Barcelona, Barcelona, Spain. FAU - Narvaez, Javier AU - Narvaez J AD - Rheumatology Department, Hospital Universitario de Bellvitge, Barcelona, Spain. FAU - Trallero-Araguas, Ernesto AU - Trallero-Araguas E AD - Department of Systemic Autoimmune Diseases, Hospital Universitario Valle de Hebron, Barcelona, Spain. FAU - Selva-O'Callaghan, Albert AU - Selva-O'Callaghan A AD - Department of Systemic Autoimmune Diseases, Hospital Universitario Valle de Hebron, Barcelona, Spain. FAU - Gualillo, Oreste AU - Gualillo O AD - SERGAS (Servizo Galego de Saude) and IDIS (Instituto de Investigacion Sanitaria de Santiago), NEIRID Lab (Neuroendocrine Interactions in Rheumatology and Inflammatory Diseases), Research Laboratory 9, Santiago University Clinical Hospital, Santiago de Compostela, Spain. FAU - Martin, Javier AU - Martin J AD - Instituto de Parasitologia y Biomedicina 'Lopez-Neyra', CSIC, PTS Granada, Granada, Spain. FAU - Cavagna, Lorenzo AU - Cavagna L AD - Division of Rheumatology, University and IRCCS Policlinico S. Matteo Foundation, Pavia, Italy. FAU - Castaneda, Santos AU - Castaneda S AD - Department of Rheumatology, Hospital Universitario de la Princesa, Madrid, Spain. FAU - Cifrian, Jose M AU - Cifrian JM AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain; School of Medicine, Universidad de Cantabria, Santander, Spain. FAU - Renzoni, Elisabetta A AU - Renzoni EA AD - Interstitial Lung Disease Unit, Royal Brompton Hospital, Imperial College, London, United Kingdom. FAU - Lopez-Mejias, Raquel AU - Lopez-Mejias R AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain. Electronic address: rlopezmejias78@gmail.com. FAU - Gonzalez-Gay, Miguel A AU - Gonzalez-Gay MA AD - Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic bone diseases of the musculoskeletal system, IDIVAL, Hospital Universitario Marques de Valdecilla, Santander, Spain; School of Medicine, Universidad de Cantabria, Santander, Spain; Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. Electronic address: miguelaggay@hotmail.com. LA - eng GR - 20719/VAC_/Versus Arthritis/United Kingdom PT - Journal Article DEP - 20201207 PL - France TA - Joint Bone Spine JT - Joint bone spine JID - 100938016 RN - 0 (Antibodies, Antinuclear) RN - 0 (Autoantibodies) RN - 0 (HLA Antigens) RN - 0 (HLA-DRB1 Chains) RN - EC 6.- (Ligases) SB - IM MH - Alleles MH - Antibodies, Antinuclear MH - Autoantibodies MH - Case-Control Studies MH - Genetic Predisposition to Disease MH - HLA Antigens MH - HLA-DRB1 Chains/genetics MH - Humans MH - *Ligases MH - *Myositis/genetics OTO - NOTNLM OT - Anti-Jo-1 antibodies OT - Anti-synthetase syndrome OT - HLA OT - HLA-B*08:01 OT - HLA-DRB1*03:01 OT - HLA-DRB1*07:01 EDAT- 2020/12/11 06:00 MHDA- 2021/06/29 06:00 CRDT- 2020/12/10 20:09 PHST- 2020/08/05 00:00 [received] PHST- 2020/11/13 00:00 [accepted] PHST- 2020/12/11 06:00 [pubmed] PHST- 2021/06/29 06:00 [medline] PHST- 2020/12/10 20:09 [entrez] AID - S1297-319X(20)30222-0 [pii] AID - 10.1016/j.jbspin.2020.105115 [doi] PST - ppublish SO - Joint Bone Spine. 2021 May;88(3):105115. doi: 10.1016/j.jbspin.2020.105115. Epub 2020 Dec 7.