Citations 2
Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: results from the MYONET registry
Hum, Ryan Malcolm , Lamb, Janine A. , Oldroyd, Alexander , Wang, Guochun , Wedderburn, Lucy R, Diederichsen, Louise Pyndt , Schmidt, Jens , Danieli, Maria Giovanna , Oakley, Paula, Griger, Zoltán , Phuong, Thuy Nguyen Thi , Kodishala, Chanakya , Mercado, Mónica Vázquez-Del , Andersson, Helena , Paepe, Boél De , Maurer, Britta , McCann, Liza , Pipitone, Nicolò , McHugh, Neil , New, Robert P, Ollier, William , Krogh, Niels Steen , Lundberg, Ingrid E. , Chinoy, Hector , Registry, MYONET, D’hose, Sophie, Lu, Xin , Tian, Xiaolan , Pleštilová, Lenka, Barochová, Tereza, Kubínová, Kateřina , Gelardi, Chiara, Paladini, Alberto , Piga, Mario Andrea , Jara, Luis J. , Cruz‐Reyes, Claudia , Andrade-Ortega, Lilia, Medrano-Ramírez, Gabriel , Salazar-Páramo, Mario , Chavarría-Ávila, Efrain , Aguilar-Vázquez, Andrea, Anda, Jesús-Aureliano Robles-De , Molberg, Øyvind , Dastmalchi, Maryam, Notarnicola, Antonella , Gheorghe, Karina, Liden, Maria, Hanna, Balsam , Jalal, Awat, Hellström, Helena, Martineus, Jehns Christian, New, Paul, Platt, Hazel, Ahmed, Yasmeen , Armstrong, Raymond, Bernstein, Robert, Black, Carol M., Butler, Robin, Carty, John , Chattopadhyay, Chandra, Chelliah, E G, Clarke, Fiona, Dawes, P. T., Devlin, Joseph, Edwards, Christopher, Emery, Paul , Fordham, J. L. A., Fraser, Alexander, Gaston, Hill, Gordon, Patrick , Griffiths, Bridget , Gunawardena, Harsha , Hall, Frances, Hanna, Michael G. , Harrison, Beverley, Hay, Elaine M. , Hilton‐Jones, David, Horden, Lesley, Jones, Adrian, Kamath, Sanjeet, Kennedy, Thomas J. , Klimiuk, P S, Knights, Sally, Lambert, John, Laxminarayan, Ramasharan, Lecky, Bryan, Marks, Jeffrey M., Martin, Michael F., McGonagle, Dennis , McHugh, Neil, McKenna, Francis, McLaren, John, McMahon, Michael , McRorie, Euan , Merry, P, Miller, James , Nicholls, Anne, Ong, Voon , Over, K. E., Packham, John, Pipitone, Nicolo, Plant, Michael, Pountain, G., Pullar, T, Roberts, Mark, Scott, David A. , Shadforth, M F, Sheeran, Thomas, Srinivasan, Arul, Swinson, David, Teh, Lee‐Suan , Webley, M, Winer, Jonathan M., Wedderburn, Lucy R. , Lilleker, James B , Lamb, Janine A , Oldroyd, Alexander G S , Wedderburn, Lucy R , Griger, Zoltan , Nguyen Thi Phuong, Thuy , Kodishala, Chanakya , Vazquez-Del Mercado, Monica , De Paepe, Boel , McHugh, Neil , Vencovsky, Jiri , Lundberg, Ingrid E , Chinoy, Hector , McCann, Liza J , Bleecker, Jan De , Vencovský, Jiří , Registry, MYONET, Mann, H. , Kryštůfková, Olga , Klein, Martin , Saavedra, Miguel A , Lastra, Olga Lidia Vera , Satoh, Minoru , Petri, Marcelo H. , Rönnelid, Johan , Lan, Nguyễn Thị Ngọc , Padyukov, Leonid , Rothwell, Simon W. , Bernstein, Robert, Bowman, Simon , Bruce, Ian N , Carty, John, Denton, Christopher P. , Edwards, Christopher, Fordham, John, Isaacs, John Dudley , Isenberg, David , Kitas, George D. , Lanyon, Peter , Luqmani, Raashid Ahmed , Machado, Pedro , Marks, Jeffrey, Martin, Michael, McHugh, Neil, Miles, Sarah, Nixon, Jennifer, Ong, Voon, Packham, John, Pipitone, Nicolo, Sanders, Paul W. , Williams, Brian, Winer, Jonathan
Rheumatology | September 11, 2023 | Volume: 63 | Issue: 8 | Pages: 2093-2100
Abstract Objectives To compare clinical characteristics, including the frequency of cutaneous, extramuscular manifestations and malignancy, between adults with anti-synthetase syndrome (ASyS) and DM. Methods Using data regarding adults from the MYONET registry, a cohort of DM patients with anti-Mi2/-TIF1γ/-NXP2/-SAE/-MDA5 autoantibodies, and a cohort of ASyS patients with anti-tRNA synthetase autoantibodies (anti-Jo1/-PL7/-PL12/-OJ/-EJ/-Zo/-KS) were identified. Patients with DM sine dermatitis or with discordant dual autoantibody specificities were excluded. Sub-cohorts of patients with ASyS with or without skin involvement were defined based on presence of DM-type rashes (heliotrope rash, Gottron’s papules/sign, violaceous rash, shawl sign, V-sign, erythroderma, and/or periorbital rash). Results In total 1054 patients were included (DM, n = 405; ASyS, n = 649). In the ASyS cohort, 31% (n = 203) had DM-type skin involvement (ASyS-DMskin). A higher frequency of extramuscular manifestations, including Mechanic’s hands, Raynaud’s phenomenon, arthritis, interstitial lung disease and cardiac involvement differentiated ASyS-DMskin from DM (all P < 0.001), whereas higher frequency of any of four DM-type rashes—heliotrope rash (n = 248, 61% vs n = 90, 44%), violaceous rash (n = 166, 41% vs n = 57, 9%), V-sign (n = 124, 31% vs n = 28, 4%), and shawl sign (n = 133, 33% vs n = 18, 3%)—differentiated DM from ASyS-DMskin (all P < 0.005). Cancer-associated myositis (CAM) was more frequent in DM (n = 67, 17%) compared with ASyS (n = 21, 3%) and ASyS-DMskin (n = 7, 3%) cohorts (both P < 0.001). Conclusion DM-type rashes are frequent in patients with ASyS; however, distinct clinical manifestations differentiate these patients from classical DM. Skin involvement in ASyS does not necessitate increased malignancy surveillance. These findings will inform future ASyS classification criteria and patient management.
Genome‐Wide Association Study of Dermatomyositis Reveals Genetic Overlap With Other Autoimmune Disorders
Miller, Frederick W. , Vencovský, Jiří , Rider, Lisa G. , Dankó, Katalin , Wedderburn, Lucy R. , Lundberg, Ingrid E. , Pachman, Lauren M. , Reed, Ann M. , Ytterberg, Steven R. , Padyukov, Leonid , Selva-O’Callaghan, Albert , Radstake, Timothy R. D. J., Isenberg, David , Chinoy, Hector , Ollier, William , OʼHanlon, Terrance P., Peng, Bo , Lee, Annette , Lamb, Janine A. , Gregersen, Peter K., Lanyon, Peter , Cooper, Robert G. , Chen, Wei , Amos, Christopher I. , Vencovsky, Jiri , Isenberg, David A , Padyukov, Leonid , Chinoy, Hector , Selva O'Callaghan, Albert , Lamb, Janine A , Lundberg, Ingrid E
Arthritis & Rheumatism | August 27, 2013 | Volume: 65 | Issue: 12 | Pages: 3239-3247
ObjectiveTo identify new genetic associations with juvenile and adult dermatomyositis (DM).MethodsWe performed a genome‐wide association study (GWAS) of adult and juvenile DM patients of European ancestry (n = 1,178) and controls (n = 4,724). To assess genetic overlap with other autoimmune disorders, we examined whether 141 single‐nucleotide polymorphisms (SNPs) outside the major histocompatibility complex (MHC) locus, and previously associated with autoimmune diseases, predispose to DM.ResultsCompared to controls, patients with DM had a strong signal in the MHC region consisting of GWAS‐level significance (P < 5 × 10–8) at 80 genotyped SNPs. An analysis of 141 non‐MHC SNPs previously associated with autoimmune diseases showed that 3 SNPs linked with 3 genes were associated with DM, with a false discovery rate (FDR) of <0.05. These genes were phospholipase C–like 1 (PLCL1; rs6738825, FDR = 0.00089), B lymphoid tyrosine kinase (BLK; rs2736340, FDR = 0.0031), and chemokine (C‐C motif) ligand 21 (CCL21; rs951005, FDR = 0.0076). None of these genes was previously reported to be associated with DM.ConclusionOur findings confirm the MHC as the major genetic region associated with DM and indicate that DM shares non‐MHC genetic features with other autoimmune diseases, suggesting the presence of additional novel risk loci. This first identification of autoimmune disease genetic predispositions shared with DM may lead to enhanced understanding of pathogenesis and novel diagnostic and therapeutic approaches.