ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 1345

Association of HLA-DRB1*0301 with Antisynthetase Syndrome in Spanish Patients

Raquel Lopez-Mejías1, Sara Remuzgo-Martínez1, Fernanda Genre1, Verónica Pulito-Cueto1, Norberto Ortego Centeno2, Eva Perez Pampín3, Antonio Mera3, Julia Martínez-Barrio4, Francisco Javier López Longo4, Verónica Mijares1, Leticia Lera-Gomez1, Sonia Fernández Rozas1, Victor Mora Cuesta5, David Iturbe Fernández1, Jose Manuel Cifrian Martinez1, Fredeswinda Romero Bueno6, Olga Sanchez-Pernaute6, Ricardo Blanco1, Laura Riesco-Dávila7, Laura Nuño8, María Gema Bonilla Hernán9, Alejandro Balsa9, Ernesto Trallero-Araguás10, Albert Selva O'Callaghan10, Javier Martin11, Javier Llorca12, Santos Castañeda13, Javier Gonzalo Ocejo7, Lorenzo Cavagna14 and Miguel Angel González-Gay1,15,16, 1Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain, Santander, Spain, 2Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain, 3Rheumatology Division. Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain, 4Rheumatology Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain, 5Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain, Santender, Spain, 6Rheumatology Division. Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain, 7Immunology Division, Hospital Universitario Marqués de Valdecilla, Santander, Spain, Santander, Spain, 8Rheumatology, Rheumatology Department, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain, 9Rheumatology Department, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain, 10Rheumatology Department. Hospital Universitario Vall d´Hebron, Barcelona, Spain, 11Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Granada, Spain., Granada, Spain, 12Division of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, Santander, Spain, Santander, Spain, 13Rheumatology, Rheumatology Department, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, 14Division of Rheumatology, University and IRCCS Policlinico S. Matteo Foundation, Pavia, Italy, 15School of Medicine, University of Cantabria, Santander, Spain, 16Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

Meeting: 2018 ACR/ARHP Annual Meeting

Keywords:

Session Information

Date: Monday, October 22, 2018

Session Title: Muscle Biology, Myositis and Myopathies Poster II: Basic and Translational Science

Session Type: ACR Poster Session B

Session Time: 9:00AM-11:00AM

Background/Purpose: Antisynthetase syndrome (ASSD) is an inflammatory connective tissue disease characterized by the classic triad: arthritis, myositis, and interstitial lung disease (ILD) [1-3]. Raynaud’s phenomenon, mechanic’s hands, and fever are other relevant but less prevalent clinical findings observed in this condition [1, 3, 4]. The pathophysiology of ASSD is not entirely understood, but genetic predisposition, viral infections and medication use may play a role in the development of this disease [5]. In this regard, the human leucocyte antigen (HLA) region has been described as a genetic factor involved in ASSD in different populations. Taking all these considerations into account, the main objective of our study was to evaluate the potential influence of the HLA region in the susceptibility of ASSD in a cohort of patients from Spain.

Methods: Our study population included 83 Spanish patients diagnosed with ASSD and 303 sex and ethnically matched controls. Patients were recruited from Hospital Universitario Marqués de Valdecilla (Santander), Hospital Clínico San Cecilio (Granada), Complejo Hospitalario Universitario de Santiago (Santiago de Compostela), Hospital General Vall d’Hebron (Barcelona) and Hospital Universitario La Princesa, Hospital Universitario Fundación Jiménez Díaz, Hospital Universitario La Paz and Hospital General Universitario Gregorio Marañón (Madrid). HLA–DRB1 alleles were determined using the polymerase chain reaction–sequence-specific oligonucleotide probe method.

Results: HLA-DRB1*03 was significantly increased in patients with ASSD compared to controls (53.0% versus 18.2%, p<0.01, odds ratio=5.09 [95% confidence interval: 2.92-8.84]). Specifically, the susceptibility effect of HLA-DRB1*03 was due to the HLA-DRB1*0301 allele.

Conclusion: Our study suggests that the HLA-DRB1*0301 allele is associated with the susceptibility to ASSD in Spanish patients.

[1] Medicine (Baltimore) 2015;94:e1144; [2] Clin Exp Rheumatol 2018;36:44-9; [3] Joint Bone Spine 2003;70:161–8; [4] Autoimmun Rev 2014;13:883–91; [5] Curr Med Chem 2015;22:1963-75.

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 CP16/00033). FG is a recipient of a Sara Borrell post-doctoral fellowship from the ISCIII, co-funded by the ESF (grant CD15/00095). SR-M is supported by funds of the RETICS Program (RD16/0012/0009), co-funded by the European Regional Development Fund, ERDF. VP-C is supported by funds of IDIVAL (PREVAL18/01). VM is supported by funds of a Miguel Servet type I programme (CP16/00033) (ISCIII, co-funded by ERDF).

Disclosure: R. Lopez-Mejías, None; S. Remuzgo-Martínez, None; F. Genre, None; V. Pulito-Cueto, None; N. Ortego Centeno, None; E. Perez Pampín, None; A. Mera, None; J. Martínez-Barrio, None; F. J. López Longo, None; V. Mijares, None; L. Lera-Gomez, None; S. Fernández Rozas, None; V. Mora Cuesta, None; D. Iturbe Fernández, None; J. M. Cifrian Martinez, None; F. Romero Bueno, None; O. Sanchez-Pernaute, None; R. Blanco, None; L. Riesco-Dávila, None; L. Nuño, None; M. G. Bonilla Hernán, None; A. Balsa, None; E. Trallero-Araguás, None; A. Selva O'Callaghan, None; J. Martin, None; J. Llorca, None; S. Castañeda, None; J. G. Ocejo, None; L. Cavagna, None; M. A. González-Gay, None.

To cite this abstract in AMA style:

Lopez-Mejías R, Remuzgo-Martínez S, Genre F, Pulito-Cueto V, Ortego Centeno N, Perez Pampín E, Mera A, Martínez-Barrio J, López Longo FJ, Mijares V, Lera-Gomez L, Fernández Rozas S, Mora Cuesta V, Iturbe Fernández D, Cifrian Martinez JM, Romero Bueno F, Sanchez-Pernaute O, Blanco R, Riesco-Dávila L, Nuño L, Bonilla Hernán MG, Balsa A, Trallero-Araguás E, Selva O'Callaghan A, Martin J, Llorca J, Castañeda S, Ocejo JG, Cavagna L, González-Gay MA. Association of HLA-DRB1*0301 with Antisynthetase Syndrome in Spanish Patients [abstract]. Arthritis Rheumatol. 2018; 70 (suppl 10). https://acrabstracts.org/abstract/association-of-hla-drb10301-with-antisynthetase-syndrome-in-spanish-patients/. Accessed January 23, 2020.

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