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1. Discovery of new myositis genetic associations through leveraging other immune-mediated diseases

Author

Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., and Wallace, Chris

Published
2024
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2. Autoantibodies and damage in patients with idiopathic inflammatory myopathies: A longitudinal multicenter study from the MYONET international network

Author

Espinosa-Ortega, Fabricio, Lodin, Karin, Dastmalchi, Maryam, Vencovsky, Jiri, Diederichsen, Louise P, Shinjo, Samuel Katsuyuki, Danieli, Maria Giovanna, Selva-O'Callaghan, Albert, de Visser, Marianne, Griger, Zoltan, Ceribelli, Angela, Gómez-Martin, Diana, Andersson, Helena, Vázquez-Del Mercado, Mónica, Chinoy, Hector, Lilleker, James B, New, Paul, Krogh, Niels S, Lundberg, Ingrid E, and Alexanderson, Helene

Published
2024
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5. K2P2.1 is a regulator of inflammatory cell responses in idiopathic inflammatory myopathies

Author

Nelke, Christopher, Müntefering, Thomas, Cengiz, Derya, Theissen, Lukas, Dobelmann, Vera, Schroeter, Christina B., Block, Helena, Preuße, Corinna, Michels, Alexander P.E., Lichtenberg, Stefanie, Pawlitzki, Marc, Pfeuffer, Steffen, Huntemann, Niklas, Zarbock, Alexander, Briese, Thorben, Kittl, Christoph, Dittmayer, Carsten, Budde, Thomas, Lundberg, Ingrid E., Stenzel, Werner, Meuth, Sven G., and Ruck, Tobias

Published
2024
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6. Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Author

Bianchi, Matteo, Kozyrev, Sergey V., Sandling, Johanna K., Rönnblom, Lars, Eloranta, Maija-Leena, Syvänen, Ann-Christine, Leonard, Dag, Dahlqvist, Johanna, Lidén, Maria, Mathioudaki, Argyri, Meadows, Jennifer RS., Nordin, Jessika, Nordmark, Gunnel, Lundberg, Ingrid E., Notarnicola, Antonella, Padyukov, Leonid, Tjärnlund, Anna, Dastmalchi, Maryam, Eriksson, Daniel, Molberg, Øyvind, Andersson, Helena, Lindblad-Toh, Kerstin, Farias, Fabiana H.G., Wahren-Herlenius, Marie, Jalal, Awat, Hanna, Balsam, Hellström, Helena, Husmark, Tomas, Häggström, Åsa, Svärd, Anna, Skogh, Thomas, Diederichsen, Louise Pyndt, Lamb, Janine A., Rothwell, Simon, Chinoy, Hector, Cooper, Robert G., Pielberg, Gerli Rosengren, Lobell, Anna, Karlsson, Åsa, Murén, Eva, Ahlgren, Kerstin M., Andersson, Göran, Landegren, Nils, Kämpe, Olle, Söderkvis, Peter, Leclair, Valérie, Galindo-Feria, Angeles S., Kryštůfková, Olga, Zargar, Sepehr Sarrafzadeh, Mann, Herman, Klein, Martin, Tansley, Sarah, McHugh, Neil, Vencovský, Jiri, Holmqvist, Marie, and Diaz-Gallo, Lina-Marcela

Published
2023
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7. Reliability and validity of PROMIS physical function, pain interference, and fatigue as patient reported outcome measures in adult idiopathic inflammatory myopathies: International study from the OMERACT myositis working group

Author

DiRenzo, Dana, Saygin, Didem, de Groot, Ingrid, Bingham III, Clifton O., Lundberg, Ingrid E., Needham, Merrilee, Park, Jin Kyun, Regardt, Malin, Sarver, Catherine, Song, Yeong Wook, Maxwell, Lara, Beaton, Dorcas, de Visser, Marianne, Christopher-Stine, Lisa, Mecoli, Christopher A., and Alexanderson, Helene

Published
2023
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8. Longitudinal assessment of reactivity and affinity profile of anti-Jo1 autoantibodies to distinct HisRS domains and a splice variant in a cohort of patients with myositis and anti-synthetase syndrome

Author

Notarnicola, Antonella, Preger, Charlotta, Lundström, Susanna L., Renard, Nuria, Wigren, Edvard, Van Gompel, Eveline, Galindo-Feria, Angeles S., Persson, Helena, Fathi, Maryam, Grunewald, Johan, Jakobsson, Per-Johan, Gräslund, Susanne, Lundberg, Ingrid E., and Fernandes-Cerqueira, Cátia

Published
2022
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9. Impact of cancer on the mortality of patients with idiopathic inflammatory myopathies by flexible parametric multistate modelling.

Author

Che, Weng Ian, Kuja‐Halkola, Ralf, Hellgren, Karin, Lundberg, Ingrid E., Westerlind, Helga, Baecklund, Fredrik, and Holmqvist, Marie

Subjects
CANCER prognosis, PROGNOSIS, CANCER diagnosis, DEATH certificates, DISEASE risk factors
Abstract

Background: Patients with idiopathic inflammatory myopathies (IIM) have an increased risk of cancer, but their cancer‐related disease burden remains unclear. Objectives: To explore how cancer might impact the mortality of patients with IIM and examine the associated prognostic factors for cancer and death. Methods: We identified patients with IIM diagnosed between 1998 and 2020 and ascertained their cancer and death records via linkage to the Swedish healthcare and population registers. Transition hazards from IIM diagnosis to cancer and death were estimated in multistate models using flexible parametric methods. We then predicted the probability of having cancer or death, and the duration of staying alive at a given time from IIM and cancer diagnoses from a crude model. We also explored prognostic factors for progression to cancer and death in a multivariable model. Results: Of 1826 IIM patients, 310 (17%) were diagnosed with cancer before and 306 (17%) after IIM diagnosis. In patients diagnosed with cancer after IIM, the 5‐year probability of death from cancer and from other causes was 31% and 18%, respectively, compared to 7% and 15% in patients without cancer after IIM. We reported several factors associated with risk of progression to cancer and death. Specifically, patients with first cancer after IIM who were older at IIM diagnosis, had cancer history, dermatomyositis and a cancer diagnosis within 1 year following IIM faced a greater cancer‐specific mortality. Conclusion: We observed a substantial increase in mortality from cancer, compared to before, rather than other causes after a cancer diagnosis following IIM, suggesting an unmet medical need for effective cancer management in IIM patients. This finding, along with the identified prognostic factors, provides useful insight into future research directions for improving cancer management in IIM patients. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Agreement between local and central anti-synthetase antibodies detection: results from the Classification Criteria of Anti-Synthetase Syndrome project biobank

Author

Loganathan, Aravinthan, primary, Zanframundo, Giovanni, additional, Yoshida, Akira, additional, Faghihi-Kashani, Sara, additional, Bauer Ventura, Iazsmin, additional, Dourado, Eduardo, additional, Bozan, Francisca, additional, Sambataro, Gianluca, additional, Yamano, Yasuhiko, additional, Bae, Sharon Sangmee, additional, Lim, Darosa, additional, Ceribelli, Angela, additional, Isailovic, Natasa, additional, Selmi, Carlo, additional, Fertig, Noreen, additional, Bravi, Elena, additional, Kaneko, Yuko, additional, Saraiva, André Pinto, additional, Jovani, Vega, additional, Bachiller-Corral, Javier, additional, Cifrian, Jose, additional, Mera-Varela, Antonio, additional, Moghadam-Kia, Siamak, additional, Wolff, Veronica, additional, Campagne, Julien, additional, Meyer, Alain, additional, Giannini, Margherita, additional, Triantafyllias, Konstantinos, additional, Knitza, Johannes, additional, Gupta, Latika, additional, Molad, Yair, additional, Iannone, Florenzo, additional, Cavazzana, Ilaria, additional, Piga, Matteo, additional, De Luca, Giacomo, additional, Tansley, Sarah, additional, Bozzalla-Cassione, Emanuele, additional, Bonella, Francesco, additional, Corte, Tamera J., additional, Doyle, Tracy J., additional, Fiorentino, David, additional, Gonzalez-Gay, Miguel Angel, additional, Hudson, Marie, additional, Kuwana, Masataka, additional, Lundberg, Ingrid E., additional, Mammen, Andrew L., additional, McHugh, Neil John, additional, Miller, Fredrick W., additional, Montecucco, Carlomaurizio, additional, Oddis, Chester V., additional, Rojas-Serrano, Jorge, additional, Schmidt, Jens, additional, Scirè, Carlo Alberto, additional, Selva-O'Callaghan, Albert, additional, Werth, Victoria P., additional, Alpini, Claudia, additional, Bozzini, Sara, additional, Cavagna, Lorenzo, additional, and Aggarwal, Rohit, additional

Published
2024
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16. Discovery of new myositis genetic associations through leveraging other immune-mediated diseases

Author

Lab Reumatologie/Klinische Immunologie, Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., Wallace, Chris, Myositis Genetics Consortium, Lab Reumatologie/Klinische Immunologie, Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., Wallace, Chris, and Myositis Genetics Consortium

Published
2024

18. The Role of Exercise to Improve Physiological, Physical and Psychological Health Outcome in Idiopathic Inflammatory Myopathies (IIM).

Author

Lodin, Karin, Espinosa-Ortega, Fabricio, Lundberg, Ingrid E, and Alexanderson, Helene

Subjects
MUSCLE weakness, AEROBIC capacity, FATIGUE (Physiology), IDIOPATHIC diseases, THERAPEUTICS
Abstract

Idiopathic inflammatory myopathies (IIM) impact all aspects of health, physiological, physical, and psychological. Hallmark symptoms of IIM are muscle weakness, reduced muscle endurance and aerobic capacity. Recently, pain and fatigue as well as anxiety and depression have emerged as common and debilitating symptoms in patients with IIM. The aim of this scoping review is to, in a holistic way, describe how IIM impact patients' physiological, physical, and psychological health and how exercise has a role to treat as well as potentially counteract the effects of the disease. Inflammation induces non-immune response and organ damage. These changes with additional impact of physical inactivity lead to muscle impairment and reduced aerobic capacity. Pain, fatigue and low psychological well-being and overall quality of life are also common health aspects of IIM. Medical treatment can reduce inflammation but has in turn serious side effects such as muscle atrophy, type-II diabetes, and hypertension, which exercise has the potential to treat, and perhaps also counteract. In addition, exercise improves muscle function, aerobic capacity and might also reduce fatigue and pain. New evidence shows that reducing systemic inflammation may also improve patient-reported subjective health, quality of life and psychological well-being. Exercise in combination with medical treatment is becoming an important part of the treatment for patients with IIM as exercise has the potential to promote health aspects of various dimensions in patients with IIM. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA

Author

Price, Mark A, Barghout, Victoria, Benveniste, Olivier, Christopher-Stine, Lisa, Corbett, Alastair, de Visser, Marianne, Hilton-Jones, David, Kissel, John T, Lloyd, Thomas E, Lundberg, Ingrid E, Mastaglia, Francis, Mozaffar, Tahseen, Needham, Merrilee, Schmidt, Jens, Sivakumar, Kumaraswamy, DeMuro, Carla, and Tseng, Brian S

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Digestive Diseases, Aging, Clinical Research, Good Health and Well Being, Adult, Aged, Aged, 80 and over, Australia, Cause of Death, Europe, Female, Health Surveys, Humans, Male, Middle Aged, Mortality, Premature, Myositis, Inclusion Body, Physicians, United States, Myositis, cause of death, deglutition disorder, inclusion body, morbidity, mortality, myositis, neuromuscular disease, Neurosciences
Abstract

BackgroundThere is a paucity of data on mortality and causes of death (CoDs) in patients with sporadic inclusion body myositis (sIBM), a rare, progressive, degenerative, inflammatory myopathy that typically affects those aged over 50 years.ObjectiveBased on patient records and expertise of clinical specialists, this study used questionnaires to evaluate physicians' views on clinical characteristics of sIBM that may impact on premature mortality and CoDs in these patients.MethodsThirteen physicians from seven countries completed two questionnaires online between December 20, 2012 and January 15, 2013. Responses to the first questionnaire were collated and presented in the second questionnaire to seek elaboration and identify consensus.ResultsAll 13 physicians completed both questionnaires, providing responses based on 585 living and 149 deceased patients under their care. Patients were reported to have experienced dysphagia (60.2%) and injurious falls (44.3%) during their disease. Over half of physicians reported that a subset of their patients with sIBM had a shortened lifespan (8/13), and agreed that bulbar dysfunction/dysphagia/oropharyngeal involvement (12/13), early-onset disease (8/13), severe symptoms (8/13), and falls (7/13) impacted lifespan. Factors related to sIBM were reported as CoDs in 40% of deceased patients. Oropharyngeal muscle dysfunction was ranked as the leading feature of sIBM that could contribute to death. The risk of premature mortality was higher than the age-matched comparison population.ConclusionsIn the absence of data from traditional sources, this study suggests that features of sIBM may contribute to premature mortality and may be used to inform future studies.

Published
2016

20. Molecular mimicry between Anoctamin 2 and Epstein-Barr virus nuclear antigen 1 associates with multiple sclerosis risk

Author

Tengvall, Katarina, Huang, Jesse, Hellström, Cecilia, Kammer, Patrick, Biström, Martin, Ayoglu, Burcu, Bomfim, Izaura Lima, Stridh, Pernilla, Butt, Julia, Brenner, Nicole, Michel, Angelika, Lundberg, Karin, Padyukov, Leonid, Lundberg, Ingrid E., Svenungsson, Elisabet, Ernberg, Ingemar, Olafsson, Sigurgeir, Dilthey, Alexander T., Hillert, Jan, Alfredsson, Lars, Sundström, Peter, Nilsson, Peter, Waterboer, Tim, Olsson, Tomas, and Kockum, Ingrid

Published
2019

24. Autoantibodies against the melanoma differentiation–associated protein 5 in patients with dermatomyositis target the helicase domains.

Author

Gompel, Eveline Van, Demirdal, Deniz, Fernandes-Cerqueira, Catia, Horuluoglu, Begum, Galindo-Feria, Angeles, Wigren, Edvard, Gräslund, Susanne, Langhe, Ellen De, Benveniste, Olivier, Notarnicola, Antonella, Chemin, Karine, and Lundberg, Ingrid E

Subjects
DERMATOMYOSITIS, MELANOMA, RESEARCH funding, AUTOANTIBODIES, ENZYME-linked immunosorbent assay, DESCRIPTIVE statistics, INTERFERONS, WESTERN immunoblotting
Abstract

Objectives Clinical observations in patients with dermatomyositis (DM) and autoantibodies against the melanoma differentiation–associated protein 5 (MDA5) suggest that the autoantibodies contribute to the pathogenesis of MDA5(+) DM. To gain insight into the role of the anti-MDA5 autoantibodies, we aimed to identify their binding sites on the different domains of the MDA5 protein. Methods We developed an in-house ELISA to assess the reactivity against the MDA5 domains (conformational epitopes) in plasma (n  = 8) and serum (n  = 24) samples from MDA5(+) patients with varying clinical manifestations and disease outcomes. The reactivities were also assessed using western blot (linearized epitopes). An ELISA-based depletion assay was developed to assess cross-reactivity among the different MDA5 domains. Results All eight plasma samples consistently showed reactivity towards conformational and linearized epitopes on the helicase domains of the MDA5 protein. The ELISA-based depletion assay suggests that anti-MDA5 autoantibodies specifically target each of the three helicase domains. Twenty-two of the 24 serum samples showed reactivity in the in-house ELISA and all 22 displayed reactivity towards the helicase domains of the MDA5 protein. Conclusions Our data revealed that the main immunogenic targets of anti-MDA5 autoantibodies from MDA5(+) patients are the helicase domains. Considering that the helicase domains are responsible for the enzymatic activity and subsequent triggering of an inflammatory response, our findings suggest that binding of anti-MDA5 autoantibodies could alter the canonical activity of the MDA5 protein and potentially affect the downstream induction of a pro-inflammatory cascade. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Performance of the 2017 EULAR/ACR Classification Criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a scoping review

Author

Saygin, Didem, primary, Glaubitz, Stefanie, additional, Zeng, Rachel, additional, Bottai, Matteo, additional, de Visser, Marianne, additional, Dimachkie, Mazen M., additional, Fiorentino, David, additional, Gerhardson, Ingrid, additional, Kuwana, Masataka, additional, Miller, Frederick W., additional, Needham, Merrilee, additional, Rider, Lisa G., additional, Salem, Yasser, additional, Schlüter, Silke, additional, Shinjo, Samuel K., additional, Wang, Guochun, additional, Werth, Victoria P., additional, Aggarwal, Rohit, additional, and Lundberg, Ingrid E., additional

Published
2023
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27. Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Author

Leclair, Valérie, primary, Galindo-Feria, Angeles S., additional, Rothwell, Simon, additional, Kryštůfková, Olga, additional, Zargar, Sepehr Sarrafzadeh, additional, Mann, Herman, additional, Diederichsen, Louise Pyndt, additional, Andersson, Helena, additional, Klein, Martin, additional, Tansley, Sarah, additional, Rönnblom, Lars, additional, Lindblad-Toh, Kerstin, additional, Syvänen, Ann-Christine, additional, Wahren-Herlenius, Marie, additional, Sandling, Johanna K., additional, McHugh, Neil, additional, Lamb, Janine A., additional, Vencovský, Jiri, additional, Chinoy, Hector, additional, Holmqvist, Marie, additional, Bianchi, Matteo, additional, Padyukov, Leonid, additional, Lundberg, Ingrid E., additional, Diaz-Gallo, Lina-Marcela, additional, Kozyrev, Sergey V., additional, Eloranta, Maija-Leena, additional, Leonard, Dag, additional, Dahlqvist, Johanna, additional, Lidén, Maria, additional, Mathioudaki, Argyri, additional, Meadows, Jennifer RS., additional, Nordin, Jessika, additional, Nordmark, Gunnel, additional, Notarnicola, Antonella, additional, Tjärnlund, Anna, additional, Dastmalchi, Maryam, additional, Eriksson, Daniel, additional, Molberg, Øyvind, additional, Farias, Fabiana H.G., additional, Jalal, Awat, additional, Hanna, Balsam, additional, Hellström, Helena, additional, Husmark, Tomas, additional, Häggström, Åsa, additional, Svärd, Anna, additional, Skogh, Thomas, additional, Cooper, Robert G., additional, Pielberg, Gerli Rosengren, additional, Lobell, Anna, additional, Karlsson, Åsa, additional, Murén, Eva, additional, Ahlgren, Kerstin M., additional, Andersson, Göran, additional, Landegren, Nils, additional, Kämpe, Olle, additional, and Söderkvis, Peter, additional

Published
2023
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28. Detection of Myositis Autoantibodies by Multi-Analytic Immunoassays in a Large Multicenter Cohort of Patients with Definite Idiopathic Inflammatory Myopathies

Author

Ghirardello, Anna, primary, Gatto, Mariele, additional, Franco, Chiara, additional, Zanatta, Elisabetta, additional, Padoan, Roberto, additional, Ienna, Luana, additional, Gallo, Nicoletta, additional, Zen, Margherita, additional, Lundberg, Ingrid E., additional, Mahler, Michael, additional, Doria, Andrea, additional, and Iaccarino, Luca, additional

Published
2023
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32. Autoantibodies against the melanoma differentiation–associated protein 5 in patients with dermatomyositis target the helicase domains

Author

Van Gompel, Eveline, primary, Demirdal, Deniz, additional, Fernandes-Cerqueira, Catia, additional, Horuluoglu, Begum, additional, Galindo-Feria, Angeles, additional, Wigren, Edvard, additional, Gräslund, Susanne, additional, De Langhe, Ellen, additional, Benveniste, Olivier, additional, Notarnicola, Antonella, additional, Chemin, Karine, additional, and Lundberg, Ingrid E, additional

Published
2023
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33. Single‐cell profiling of muscle‐infiltrating T cells in idiopathic inflammatory myopathies

Author

Argyriou, Alexandra, primary, Horuluoglu, Begum, additional, Galindo‐Feria, Angeles Shunashy, additional, Diaz‐Boada, Juan Sebastian, additional, Sijbranda, Merel, additional, Notarnicola, Antonella, additional, Dani, Lara, additional, van Vollenhoven, Annika, additional, Ramsköld, Daniel, additional, Nennesmo, Inger, additional, Dastmalchi, Maryam, additional, Lundberg, Ingrid E, additional, Diaz‐Gallo, Lina‐Marcela, additional, and Chemin, Karine, additional

Published
2023
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34. Genome-wide imputation identifies novel associations and localises signals in idiopathic inflammatory myopathies

Author

Rothwell, Simon, Amos, Christopher I, Miller, Frederick W, Rider, Lisa G, Lundberg, Ingrid E, Gregersen, Peter K, Vencovsky, Jiri, McHugh, Neil, Limaye, Vidya, Selva-O'Callaghan, Albert, Hanna, Michael G, Machado, Pedro M, Pachman, Lauren M, Reed, Ann M, Molberg, Øyvind, Benveniste, Olivier, Mathiesen, Pernille, Radstake, Timothy, Doria, Andrea, De Bleecker, Jan L, De Paepe, Boel, Maurer, Britta, Ollier, William E, Padyukov, Leonid, O'Hanlon, Terrance P, Lee, Annette, Wedderburn, Lucy R, Chinoy, Hector, and Lamb, Janine A

Subjects
610 Medicine & health
Abstract

OBJECTIVES The idiopathic inflammatory myopathies (IIM) are heterogeneous diseases, thought to be initiated by immune activation in genetically predisposed individuals. In this study we imputed variants from the Immunochip array using a large reference panel to fine-map associations and identify novel associations in IIM. METHODS We analysed 2,565 Caucasian IIM samples collected through the Myositis Genetics Consortium (MYOGEN) and 10,260 ethnically-matched controls. We imputed 1,648,116 variants from the Immunochip array using the Haplotype Reference Consortium panel and conducted association analysis on IIM, and clinical and serological subgroups. RESULTS The human leukocyte antigen (HLA) locus was consistently the most significantly associated region. Four non-HLA regions reached genome-wide significance, three in the whole IIM cohort (SDK2 and LINC00924 - both novel, and STAT4), with evidence of independent variants in STAT4, and NAB1 in the polymyositis (PM) subgroup. We also found suggestive evidence of association with loci previously associated with other autoimmune rheumatic diseases (TEC and LTBR). We identified more significant associations than those previously reported in IIM, for STAT4 and DGKQ in the total cohort, for NAB1 and FAM167A-BLK loci in PM, and CCR5 in inclusion body myositis. We found enrichment of variants among DNase I hypersensitivity sites and histone marks associated with active transcription within blood cells. CONCLUSIONS We report novel and strong associations in IIM and PM, and localise signals to single genes and immune cell types. This article is protected by copyright. All rights reserved.

Published
2023

36. Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Author

Leclair, Valerie, Galindo-Feria, Angeles S., Rothwell, Simon, Krystufkova, Olga, Zargar, Sepehr Sarrafzadeh, Mann, Herman, Diederichsen, Louise Pyndt, Andersson, Helena, Klein, Martin, Tansley, Sarah, Rönnblom, Lars, Lindblad-Toh, Kerstin, Syvänen, Ann-Christine, Wahren-Herlenius, Marie, Sandling, Johanna K., McHugh, Neil, Lamb, Janine A., Vencovsky, Jiri, Chinoy, Hector, Holmqvist, Marie, Bianchi, Matteo, Padyukov, Leonid, Lundberg, Ingrid E., Diaz-Galloc, Lina-Marcela, Leclair, Valerie, Galindo-Feria, Angeles S., Rothwell, Simon, Krystufkova, Olga, Zargar, Sepehr Sarrafzadeh, Mann, Herman, Diederichsen, Louise Pyndt, Andersson, Helena, Klein, Martin, Tansley, Sarah, Rönnblom, Lars, Lindblad-Toh, Kerstin, Syvänen, Ann-Christine, Wahren-Herlenius, Marie, Sandling, Johanna K., McHugh, Neil, Lamb, Janine A., Vencovsky, Jiri, Chinoy, Hector, Holmqvist, Marie, Bianchi, Matteo, Padyukov, Leonid, Lundberg, Ingrid E., and Diaz-Galloc, Lina-Marcela

Abstract

Background In patients with idiopathic inflammatory myopathies (IIM), autoantibodies are associated with specific clinical phenotypes suggesting a pathogenic role of adaptive immunity. We explored if autoantibody profiles are associated with specific HLA genetic variants and clinical manifestations in IIM. Methods We included 1348 IIM patients and determined the occurrence of 14 myositis-specific or-associated autoantibodies. We used unsupervised cluster analysis to identify autoantibody-defined subgroups and logistic regression to estimate associations with clinical manifestations, HLA-DRB1, HLA-DQA1, HLA-DQB1 alleles, and amino acids imputed from genetic information of HLA class II and I molecules. Findings We identified eight subgroups with the following dominant autoantibodies: anti-Ro52, -U1RNP, -PM/Scl,-Mi2,-Jo1,-Jo1/Ro52,-TIF1 gamma or negative for all analysed autoantibodies. Associations with HLA-DRB1*11, HLA-DRB1*15, HLA-DQA1*03, and HLA-DQB1*03 were present in the anti-U1RNP-dominated subgroup. HLA-DRB1*03, HLA-DQA1*05, and HLA-DQB1*02 alleles were overrepresented in the anti-PM/Scl and anti-Jo1/ Ro52-dominated subgroups. HLA-DRB1*16, HLA-DRB1*07 alleles were most frequent in anti-Mi2 and HLA- DRB1*01 and HLA-DRB1*07 alleles in the anti-TIF1 gamma subgroup. The HLA-DRB1*13, HLA-DQA1*01 and HLA-DQB1*06 alleles were overrepresented in the negative subgroup. Significant signals from variations in class I molecules were detected in the subgroups dominated by anti-Mi2, anti-Jo1/Ro52, anti-TIF1 gamma, and the negative subgroup. Interpretation Distinct HLA class II and I associations were observed for almost all autoantibody-defined subgroups. The associations support autoantibody profiles use for classifying IIM which would likely reflect underlying pathogenic mechanisms better than classifications based on clinical symptoms and/or histopathological features. Funding See a detailed list of funding bodies in the Acknowledgements section at the end of the manuscr

Published
2023
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37. Autoantigenic properties of the aminoacyl tRNA synthetase family in idiopathic inflammatory myopathies

Author

Preger, Charlotta, Notarnicola, Antonella, Hellström, Cecilia, Wigren, Edvard, Fernandes-Cerqueira, Catia, Kvarnstrom, Marika, Wahren-Herlenius, Marie, Idborg, Helena, Lundberg, Ingrid E., Persson, Helena, Graslund, Susanne, Jakobsson, Per-Johan, Preger, Charlotta, Notarnicola, Antonella, Hellström, Cecilia, Wigren, Edvard, Fernandes-Cerqueira, Catia, Kvarnstrom, Marika, Wahren-Herlenius, Marie, Idborg, Helena, Lundberg, Ingrid E., Persson, Helena, Graslund, Susanne, and Jakobsson, Per-Johan

Abstract

Objectives: Autoantibodies are thought to play a key role in the pathogenesis of idiopathic inflammatory my-opathies (IIM). However, up to 40% of IIM patients, even those with clinical manifestations of anti-synthetase syndrome (ASSD), test seronegative to known myositis-specific autoantibodies. We hypothesized the existence of new potential autoantigens among human cytoplasmic aminoacyl tRNA synthetases (aaRS) in patients with IIM.Methods: Plasma samples from 217 patients with IIM according to 2017 EULAR/ACR criteria, including 50 pa-tients with ASSD, 165 without, and two with unknown ASSD status were identified retrospectively, as well as age and gender-matched sera from 156 population controls, and 219 disease controls. Patients with previously documented ASSD had to test positive for at least one of the five most common anti-aaRS autoantibodies (anti-Jo1,-PL7,-PL12,-EJ, and-OJ) and present with one or more of the following clinical manifestations: interstitial lung disease, myositis, arthritis, Raynaud's phenomenon, fever, or mechanic's hands. Demographics, laboratory, and clinical data of the IIM cohort (ASSD and non-ASSD) were compared. Samples were screened using a multiplex bead array assay for presence of autoantibodies against a panel of 117 recombinant protein variants, representing 33 myositis-related proteins, including all nineteen cytoplasmic aaRS. Prospectively collected clinical data for the IIM cohort were retrieved and compared between groups within the IIM cohort and correlated with the results of the autoantibody screening. Principal component analysis was used to analyze clinical manifestations between ASSD, non-ASSD groups, and individuals with novel anti-aaRS autoantibodies. Results: We identified reactivity towards 16 aaRS in 72 of the 217 IIM patients. Twelve patients displayed reactivity against nine novel aaRS. The novel autoantibody specificities were detected in four previously sero-negative patients for myositis-specific autoantibodies, QC 20230118

Published
2023
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38. Performance of the 2016 ACR-EULAR Myositis Response Criteria in Adult Dermatomyositis/Polymyositis Therapeutic Trials and Consensus Profiles

Author

Saygin, Didem, Kim, Hannah, Douglas, Christian, Erman, Brian, Wilkerson, Jesse, McGrath, John J., Oddis, Chester V., Lundberg, Ingrid E., Amato, Anthony A., La Torre, Ignacio García-De, Chinoy, Hector, Fiorentino, David, Chung, Lorinda, Song, Yeong-Wook, Miller, Frederick W, Ruperto, Nicolino, Vencovsky, Jiri, Aggarwal, Rohit, and Rider, Lisa G.

Subjects
Rheumatology, Pharmacology (medical)
Abstract

Objective The ACR-EULAR Myositis Response Criteria (MRC) were developed as a composite measure using absolute percentage change in six core set measures (CSMs). We aimed to further validate the MRC by assessing the contribution of each CSM, frequency of strength vs extramuscular activity improvement, representation of patient-reported outcome measures (PROM), and frequency of CSM worsening. Methods Data from adult dermatomyositis/polymyositis patients in the rituximab (n = 147), etanercept (n = 14), and abatacept (n = 19) trials, and consensus patient profiles (n = 232) were evaluated. The Total Improvement Score (TIS), number of improving vs worsening CSMs, frequency of improvement with and without muscle-related CSMs, and contribution of PROM were evaluated by MRC category. Regression analysis was performed to assess contribution of each CSM to the MRC. Results Of 412 adults with dermatomyositis/polymyositis, there were 37%, 24%, 25%, and 14% with no, minimal, moderate, and major MRC improvement, respectively. The number of improving CSMs and absolute percentage change in all CSMs increased by improvement category. In minimal-moderate improvement, only physician-reported disease activity contributed significantly more than expected by MRC. Of patients with at least minimal improvement, 95% had improvement in muscle-related measures and a majority (84%) had improvement in PROM. Patients with minimal improvement had worsening in a median of 1 CSM, and most patients with moderate-major improvement had no worsening CSMs. Physician assessment of change generally agreed with MRC improvement categories. Conclusion The ACR-EULAR MRC performs consistently across multiple studies, further supporting its use as an efficacy end point in future myositis therapeutic trials.

Published
2023

40. Autoantigenic properties of the aminoacyl tRNA synthetase family in idiopathic inflammatory myopathies

Author

Preger, Charlotta, primary, Notarnicola, Antonella, additional, Hellström, Cecilia, additional, Wigren, Edvard, additional, Fernandes-Cerqueira, Cátia, additional, Kvarnström, Marika, additional, Wahren-Herlenius, Marie, additional, Idborg, Helena, additional, Lundberg, Ingrid E., additional, Persson, Helena, additional, Gräslund, Susanne, additional, and Jakobsson, Per-Johan, additional

Published
2023
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43. 205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

Author

De Bleecker, Jan L., De Paepe, Boel, Aronica, Eleonora, de Visser, Marianne, Amato, Anthony, Benveniste, Olivier, De Bleecker, Jan, de Boer, Onno, Dimachkie, Mazen, Gherardi, Romain, Goebel, Hans Hilmar, Hilton-Jones, David, Holton, Janice, Lundberg, Ingrid E., Mammen, Andrew, Mastaglia, Frank, Nishino, Ichizo, Rushing, Elisabeth, Daa Schroder, Henrik, Selcen, Duygu, and Stenzel, Werner

Published
2015
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46. High-Dimensional Cytometry Dissects Immunological Fingerprints of Idiopathic Inflammatory Myopathies

Author

Nelke, Christopher, primary, Pawlitzki, Marc, additional, Schroeter, Christina B., additional, Huntemann, Niklas, additional, Räuber, Saskia, additional, Dobelmann, Vera, additional, Preusse, Corinna, additional, Roos, Andreas, additional, Allenbach, Yves, additional, Benveniste, Olivier, additional, Wiendl, Heinz, additional, Lundberg, Ingrid E., additional, Stenzel, Werner, additional, Meuth, Sven G., additional, and Ruck, Tobias, additional

Published
2022
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48. Low copy numbers of complementC4andC4Adeficiency are risk factors for myositis, its subgroups and autoantibodies

Author

Zhou, Danlei, primary, King, Emily H, additional, Rothwell, Simon, additional, Krystufkova, Olga, additional, Notarnicola, Antonella, additional, Coss, Samantha, additional, Abdul-Aziz, Rabheh, additional, Miller, Katherine E, additional, Dang, Amanda, additional, Yu, G Richard, additional, Drew, Joanne, additional, Lundström, Emeli, additional, Pachman, Lauren M, additional, Mamyrova, Gulnara, additional, Curiel, Rodolfo V, additional, De Paepe, Boel, additional, De Bleecker, Jan L, additional, Payton, Antony, additional, Ollier, William, additional, O'Hanlon, Terrance P, additional, Targoff, Ira N, additional, Flegel, Willy A, additional, Sivaraman, Vidya, additional, Oberle, Edward, additional, Akoghlanian, Shoghik, additional, Driest, Kyla, additional, Spencer, Charles H, additional, Wu, Yee Ling, additional, Nagaraja, Haikady N, additional, Ardoin, Stacy P, additional, Chinoy, Hector, additional, Rider, Lisa G, additional, Miller, Frederick W, additional, Lundberg, Ingrid E, additional, Padyukov, Leonid, additional, Vencovský, Jiří, additional, Lamb, Janine A, additional, and Yu, Chack-Yung, additional

Published
2022
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50. The EuroMyositis registry: an international collaborative tool to facilitate myositis research

Author

Lilleker, James B, Vencovsky, Jiri, Wang, Guochun, Wedderburn, Lucy R, Diederichsen, Louise Pyndt, Schmidt, Jens, Oakley, Paula, Benveniste, Olivier, Danieli, Maria Giovanna, Danko, Katalin, Thuy, Nguyen Thi Phuong, Vazquez-Del Mercado, Monica, Andersson, Helena, De Paepe, Boel, deBleecker, Jan L, Maurer, Britta, McCann, Liza J, Pipitone, Nicolo, McHugh, Neil, Betteridge, Zoe E, New, Paul, Cooper, Robert G, Ollier, William E, Lamb, Janine A, Krogh, Niels Steen, Lundberg, Ingrid E, Chinoy, Hector, D’hose, Sophie, Tian, Xin Lu,xiaolan, Mann, Herman, Kryštufková, Olga, Pleštilová, Lenka, Barochová,katerina kubínová, Martin Klein,tereza, Gelardi, Chiara, Pedini, Veronica, Cardinaletti, Paolo, Jara, Luis J, Saavedra, Miguel A, Cruz-reyes, Claudia V, Vera-lastra, Olga, Andrade-ortega, Lilia, Medrano-ramírez, Gabriel, Satoh, Minoru, Salazar-páramo, Mario, Gomez-bañuelos, Eduardo, Aguilar-arreola, Jorge, Durán-barragán, Sergio, Navarro-hernandez, Rosa Elena, Petri, Marcelo H, Molberg, Øyvind, Dastmalchi, Maryam, Notarnicola, Antonella, Gheorghe, Karina, Rönnelid, Johan, Liden, Maria, Hanna, Balsam, Jalal, Awat, Hellström, Helena, Martineus, Jehns Christian, Ngoc lan, Nguyen Thi, Padyukov, Leonid, New, Paul, Platt, Hazel, Rothwell, Simon, Ahmed, Yasmeen, Armstrong, Raymond, Bernstein, Robert, Black, Carol, Bowman, Simon, Bruce, Ian, Butler, Robin, Carty, John, Chattopadhyay, Chandra, Chelliah, Easwaradhas, Clarke, Fiona, Dawes, Peter, Denton, Christopher, Devlin, Joseph, Edwards, Christopher, Emery, Paul, Fordham, John, Fraser, Alexander, Gaston, Hill, Gordon, Patrick, Griffiths, Bridget, Gunawardena, Harsha, Hall, Frances, Hanna, Michael, Harrison, Beverley, Hay, Elaine, Hilton-jones, David, Horden, Lesley, Isaacs, John, Isenberg, David, Jones, Adrian, Kamath, Sanjeet, Kennedy, Thomas, Kitas, George, Klimiuk, Peter, Knights, Sally, Lambert, John, Lanyon, Peter, Laxminarayan, Ramasharan, Lecky, Bryan, Luqmani, Raashid, Machado, Pedro, Marks, Jeffrey, Martin, Michael, Mcgonagle, Dennis, Mchugh, Neil, Mckenna, Francis, Mclaren, John, Mcmahon, Michael, Mcrorie, Euan, Merry, Peter, Miles, Sarah, Miller, James, Nicholls, Anne, Nixon, Jennifer, Ong, Voon, Over, Katherine, Packham, John, Pipitone, Nicolo, Plant, Michael, Pountain, Gillian, Pullar, Thomas, Roberts, Mark, Sanders, Paul, Scott, David, Scott, David, Shadforth, Michael, Sheeran, Thomas, Srinivasan, Arul, Swinson, David, Teh, Lee-suan, Webley, Michael, Williams, Brian, and Winer, Jonathan

Published
2018
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