Date: Monday, October 22, 2018
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 . 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.
 Medicine (Baltimore) 2015;94:e1144;  Clin Exp Rheumatol 2018;36:44-9;  Joint Bone Spine 2003;70:161–8;  Autoimmun Rev 2014;13:883–91;  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).
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 April 1, 2020.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/association-of-hla-drb10301-with-antisynthetase-syndrome-in-spanish-patients/