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1.

001-es BibID:BIBFORM073208
035-os BibID:(WoS)000398387200006 (Scopus)85019025865
Első szerző:Aggarwal, Rohit
Cím:2016 American College of Rheumatology/European League Against Rheumatism criteria for minimal, moderate, and major clinical response in adult dermatomyositis and polymyositis / Rohit Aggarwal, Lisa G. Rider, Nicolino Ruperto, Nastaran Bayat, Brian Erman, Brian M. Feldman, Chester V. Oddis, Anthony A. Amato, Hector Chinoy, Robert G. Cooper, Maryam Dastmalchi, David Fiorentino, David Isenberg, James D. Katz, Andrew Mammen, Marianne de Visser, Steven R. Ytterberg, Ingrid E. Lundberg, Lorinda Chung, Katalin Danko, Ignacio García-De la Torre, Yeong Wook Song, Luca Villa, Mariangela Rinaldi, Howard Rockette, Peter A. Lachenbruch, Frederick W. Miller, Jiri Vencovsky, International Myositis Assessment and Clinical Studies Group, Paediatric Rheumatology International Trials Organisation
Dátum:2017
ISSN:0003-4967
Megjegyzések:To develop response criteria for adult dermatomyositis (DM) and polymyositis (PM). Expert surveys, logistic regression, and conjoint analysis were used to develop 287 definitions using core set measures. Myositis experts rated greater improvement among multiple pairwise scenarios in conjoint analysis surveys, where different levels of improvement in 2 core set measures were presented. The PAPRIKA (Potentially All Pairwise Rankings of All Possible Alternatives) method determined the relative weights of core set measures and conjoint analysis definitions. The performance characteristics of the definitions were evaluated on patient profiles using expert consensus (gold standard) and were validated using data from a clinical trial. The nominal group technique was used to reach consensus. Consensus was reached for a conjoint analysis-based continuous model using absolute per cent change in core set measures (physician, patient, and extramuscular global activity, muscle strength, Health Assessment Questionnaire, and muscle enzyme levels). A total improvement score (range 0-100), determined by summing scores for each core set measure, was based on improvement in and relative weight of each core set measure. Thresholds for minimal, moderate, and major improvement were ?20, ?40, and ?60 points in the total improvement score. The same criteria were chosen for juvenile DM, with different improvement thresholds. Sensitivity and specificity in DM/PM patient cohorts were 85% and 92%, 90% and 96%, and 92% and 98% for minimal, moderate, and major improvement, respectively. Definitions were validated in the clinical trial analysis for differentiating the physician rating of improvement (p<0.001). The response criteria for adult DM/PM consisted of the conjoint analysis model based on absolute per cent change in 6 core set measures, with thresholds for minimal, moderate, and major improvement.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Dermatomyositis
Polymyositis
Treatment
Megjelenés:Annals Of The Rheumatic Diseases. - 76 : 5 (2017), p. 792-801. -
További szerzők:Rider, Lisa G. Ruperto, Nicolino Bayat, Nastaran Erman, Brian Feldman, Brian M. Oddis, Chester V. Amato, Anthony A. Chinoy, Hector Cooper, Robert G. Dastmalchi, Maryam Fiorentino, David Isenberg, David A. Katz, James D. Mammen, Andrew Visser, Marianne de Ytterberg, Steven R. Lundberg, Ingrid Chung, Lorinda Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Torre, Ignacio García-De la Song, Yeong Wook Villa, Luca Rinaldi, Mariangela Rockette, Howard Lachenbruch, Peter A. Miller, Frederick W. Vencovsky, Jiri International Myositis Assessment and Clinical Studies Group Paediatric Rheumatology International Trials Organisation (PRINTO)
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2.

001-es BibID:BIBFORM017932
Első szerző:Aleksza Magdolna
Cím:Altered cytokine expression of peripheral blood lymphocytes in polymyositis and dermatomyositis / Aleksza Magdolna, Szegedi Andrea, Antal-Szalmás Péter, Irinyi Beatrix, Gergely Lajos, Ponyi Andrea, Hunyadi János, Sipka Sándor, Zeher Margit, Szegedi Gyula, Dankó Katalin
Dátum:2005
Megjegyzések:Objective: To investigate the intracellular and soluble cytokine levels and T cell subsets in peripheral blood of patients with active and inactive polymyositis and dermatomyositis. Methods: The frequencies of T and B lymphocytes, T helper (Th), and T cytotoxic (Tc) cells and of interferon c (IFNc), interleukin (IL)4, and IL10 expression of CD4+ or CD8+ cells were determined by flow cytometry. The concentrations of soluble cytokines were measured with commercial enzyme linked immunosorbent assays. Results: In active dermatomyositis there was a decreased percentage of T (CD3+) lymphocytes and Tc (CD8+) lymphocytes, decreased IFNc expression of CD4+ and CD8+ cells, but an increase in B and IL4 producing CD4+ lymphocyte frequencies. These prominent changes disappeared in the inactive stage of the disease. In polymyositis no significant change in these lymphocyte subsets or in intracellular cytokine expression could be detected in either the active or the inactive form. The frequency of IL4+/IFNc+ Th cells was calculated and a significantly increased Th2/Th1 frequency was found in active dermatomyositis, and a decreased frequency in inactive dermatomyositis, compared with the control population. Conclusions: There appears to be a difference between polymyositis and dermatomyositis in the level of peripheral blood lymphocytes and their intracellular cytokine content. These findings provide further evidence for a difference in the pathogenesis of polymyositis and dermatomyositis.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
egyetemen (Magyarországon) készült közlemény
Megjelenés:Annals of the Rheumatic Diseases. - 64 : 10 (2005), p. 1485-1489. -
További szerzők:Szegedi Andrea (1964-) (bőrgyógyász) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos) Irinyi Beatrix (1972-) (bőrgyógyász, allergológus) Gergely Lajos (1965-) (belgyógyász, haematológus) Ponyi Andrea Hunyadi János (1943-) (bőrgyógyász, kozmetológus, allergológus) Sipka Sándor (1945-) (laboratóriumi szakorvos) Zeher Margit (1957-2018) (belgyógyász, allergológus és klinikai immunológus, reumatológus) Szegedi Gyula (1936-2013) (belgyógyász, immunológus) Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus)
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3.

001-es BibID:BIBFORM016576
035-os BibID:WOS:000278017700038
Első szerző:Amital, Howard
Cím:Serum concentrations of 25-OH vitamin D in patients with systemic lupus erythematosus (SLE) are inversely related to disease activity : is it time to routinely supplement patients with SLE with vitamin D? / Amital, H., Szekanecz, Z., Szucs, G., Danko, K., Nagy, E., Csepany, T., Kiss, E., Rovensky, J., Tuchynova, A., Kozakova, D., Doria, A., Corocher, N., Agmon-Levin, N., Barak, V., Orbach, H., Zandman-Goddard, G., Shoenfeld, Y.
Dátum:2010
ISSN:0003-4967
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
külföldön készült közlemény
Megjelenés:Annals Of The Rheumatic Diseases. - 69 : 6 (2010), p. 1155-1157. -
További szerzők:Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Szűcs Gabriella (1963-) (belgyógyász, allergológus és klinikai immunológus, reumatológus) Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Nagy Endre V. (1957-) (belgyógyász, endokrinológus) Csépány Tünde (1956-) (neurológus, pszichiáter) Kiss E. (Budapest) Rovensky, Josef Tuchynova, Alena Kozakova, D. Doria, Andrea Corocher, Nadia Agmon-Levin, Nancy Barak, Vivian Orbach, Hedi Zandman-Goddard, Gisele Shoenfeld, Yehuda
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4.

001-es BibID:BIBFORM040271
Első szerző:Chinoy, Hector
Cím:Interaction of HLA-DRB1*03 and smoking for the development of anti-Jo-1 antibodies in adult idiopathic inflammatory myopathies : a European-wide case study / Chinoy H., Adimulam S., Marriage F., New P., Vincze M., Zilahi E., Kapitány A., Gyetvai A., Ekholm L., Novota P., Remakova M., Charles P., McHugh N. J., Padyukov L., Alfredsson L., Vencovsky J., Lundberg I. E., Danko K., Ollier W. E., Cooper R. G.
Dátum:2012
Megjegyzések:Objectives: HLA-DRB1*03 is strongly associated withanti-Jo-1-positive idiopathic infl ammatory myopathies (IIM)and there is now increasing evidence that Jo-1 antigen ispreferentially expressed in lung tissue. This study examinedwhether smoking was associated with the development ofanti-Jo-1 antibodies in HLA-DRB1*03-positive IIM.Methods IIM cases were selected with concurrentinformation regarding HLA-DRB1 status, smoking historyand anti-Jo-1 antibody status. DNA was genotypedat DRB1 using a commercial sequence-specifi coligonucleotide kit. Anti-Jo-1 antibody status wasestablished using a line blot assay or immunoprecipitation.Results 557 Caucasian IIM patients were recruited fromHungary (181), UK (99), Sweden (94) and Czech Republic(183). Smoking frequency was increased in anti-Jo-1-positive IIM cases, and reached statistical signifi cance inHungarian IIM (45% Jo-1-positive vs 17% Jo-1-negative,OR 3.94, 95% CI 1.53 to 9.89, p<0.0001). A strongassociation between HLA-DRB1*03 and anti-Jo-1status was observed across all four cohorts (DRB1*03frequency: 74% Jo-1-positive vs 35% Jo-1-negative, OR5.55, 95% CI 3.42 to 9.14, p<0.0001). The frequency ofHLA-DRB1*03 was increased in smokers. The frequencyof anti-Jo-1 was increased in DRB1*03-positive smokersvs DRB1*03-negative non-smokers (42% vs 8%, OR 7.75,95% CI 4.21 to 14.28, p<0.0001) and DRB1*03-positivenon-smokers (42% vs 31%, p=0.08). In DRB1*03-negative patients, anti-Jo-1 status between smokers andnon-smokers was not signifi cantly different. No signifi cantinteraction was noted between smoking and DRB1*03status using anti-Jo-1 as the outcome measure.Conclusion Smoking appears to be associated withan increased risk of possession of anti-Jo-1 in HLADRB1*03-positive IIM cases. The authors hypothesisethat an interaction between HLA-DRB1*03 and smokingmay prime the development of anti-Jo-1 antibodies.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
myopathy
Megjelenés:Annals of the Rheumatic Diseases 71 : 6 (2012), p. 961-965. -
További szerzők:Adimulam, S. Marriage, F. New, Paul Nagy-Vincze Melinda (1985-) (orvos) Zilahi Erika (1964-) (molekuláris biológus) Kapitány Anikó (1979-) (molekuláris biológus) Gyetvai Ágnes Ekholm, L. Novota, P. Remakova, M. Charles, Peter McHugh, Neil Padyukov, Leonid Alfredsson, Lars Vencovsky, Jiri Lundberg, Ingrid Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Ollier, William E. Cooper, Robert G.
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5.

001-es BibID:BIBFORM033766
Első szerző:Czirják László
Cím:Polymorphonuclear neutrophil function in systemic sclerosis / Czirják L., Dankó K., Sipka S., Zeher M., Szegedi Gy.
Dátum:1987
Megjegyzések:In vitro functions of polymorphonuclear (PMN) neutrophils were studied in 20 patients with progressive systemic sclerosis (PSS). An increase in the basal chemiluminescence (CL) activity of peripheral blood PMNs was found, suggesting that these cells had been preactivated in vivo. Patients with more extensive skin disease or signs of disease progression tended to have higher basal CL values. Active oxygen products during the respiratory burst may increase the extent of inflammatory and fibrotic processes and could be involved in the endothelial injury in PSS. The stimulatory capacity of CL response was normal in our study. No alterations were found in the opsonised yeast phagocytic activity of granulocytes when compared with control values. The binding of erythrocyte-antibody particles was found also to be normal. A depressed chemotactic activity of PMN cells against zymosan activated serum was also shown. The cause of the decreased chemotaxis of PMNs remains to be elucidated.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Annals of the Rheumatic Diseases. - 46 : 4 (1987), p. 302-306. -
További szerzők:Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Sipka Sándor (1945-) (laboratóriumi szakorvos) Zeher Margit (1957-2018) (belgyógyász, allergológus és klinikai immunológus, reumatológus) Szegedi Gyula (1936-2013) (belgyógyász, immunológus)
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6.

001-es BibID:BIBFORM077422
035-os BibID:(Cikkazonosító)e51 (WoS)000440169600005 (Scopus)85049024561
Első szerző:Lilleker, James B.
Cím:Response to: "Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria" by Cavagna et al / James B. Lilleker, Jiri Vencovsky, Guochun Wang, Lucy R. Wedderburn, Louise P. Diederichsen, Jens Schmidt, Paula Jordan, Olivier Benveniste, Maria Giovanna Danieli, Katalin Dankó, Nguyen Thi Phuong Thuy, Monica Vázquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L. De Bleecker, Britta Maurer, Liza J. McCann, Nicolo Pipitone, Neil McHugh, Zoe Betteridge, Paul New, Robert G. Cooper, William E. Ollier, Janine A. Lamb, Niels Steen Krogh, Ingrid E. Lundberg, Hector Chinoy, EuroMyositis contributors
Dátum:2017
ISSN:0003-4967
Tárgyszavak:Orvostudományok Klinikai orvostudományok hozzászólás
Megjelenés:Annals of The Rheumatic Diseases. - 77 : 8 (2017), p. 1. -
További szerzők:Vencovsky, Jiri Wang, Guochun Wedderburn, Lucy R. Diederichsen, Louise Pyndt Schmidt, Jens Jordan, Paula Benveniste, Olivier Danieli, Maria Giovanna Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Nguyen, Thi Le Phuong Vazquez-Del Mercado, Monica Andersson, Helena De Paepe, Boel De Bleecker, Jan Maurer, Britta McCann, Liza J. Pipitone, Nicolo McHugh, Neil Betteridge, Zoe New, Paul Cooper, Robert G. Ollier, William E. Lamb, Janine A. Krogh, Niels Steen Lundberg, Ingrid Chinoy, Hector EuroMyositis contributors
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7.

001-es BibID:BIBFORM073211
035-os BibID:(WoS)000417778700010 (Scopus)85038218055
Első szerző:Lilleker, James B.
Cím:The EuroMyositis registry : an international collaborative tool to facilitate myositis research / James B. Lilleker, Jiri Vencovsky, Guochun Wang, Lucy R. Wedderburn, Louise Pyndt Diederichsen, Jens Schmidt, Paula Oakley, Olivier Benveniste, Maria Giovanna Danieli, Katalin Danko, Nguyen Thi Phuong Thuy, Monica Vazquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L. deBleecker, Britta Maurer, Liza J. McCann, Nicolo Pipitone, Neil McHugh, Zoe E. Betteridge, Paul New, Robert G. Cooper, William E. Ollier, Janine A. Lamb, Niels Steen Krogh, Ingrid E. Lundberg, Hector Chinoy, EuroMyositis contributors
Dátum:2018
ISSN:0003-4967
Megjegyzések:AIMS:The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data.METHODS:Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtypes, extramuscular involvement, environmental exposures and medications were investigated.RESULTS:Of 3067 IIM cases, 69% were female. The most common IIM subtype was dermatomyositis (DM) (31%). Smoking was more frequent in connective tissue disease overlap cases (45%, OR 1.44, 95% CI 1.09 to 1.90, p=0.012). Smoking was associated with interstitial lung disease (ILD) (OR 1.32, 95% CI 1.06 to 1.65, p=0.013), dysphagia (OR 1.43, 95% CI 1.16 to 1.77, p=0.001), malignancy ever (OR 1.78, 95% CI 1.36 to 2.33, p<0.001) and cardiac involvement (OR 2.40, 95% CI 1.60 to 3.60, p<0.001).Dysphagia occurred in 39% and cardiac involvement in 9%; either occurrence was associated with higher Health Assessment Questionnaire (HAQ) scores (adjusted OR 1.79, 95% CI 1.43 to 2.23, p<0.001). HAQ scores were also higher in inclusion body myositis cases (adjusted OR 3.85, 95% CI 2.52 to 5.90, p<0.001). Malignancy (ever) occurred in 13%, most commonly in DM (20%, OR 2.06, 95% CI 1.65 to 2.57, p<0.001).ILD occurred in 30%, most frequently in antisynthetase syndrome (71%, OR 10.7, 95% CI 8.6 to 13.4, p<0.001). Rash characteristics differed between adult-onset and juvenile-onset DM cases ('V' sign: 56%?DM vs 16% juvenile-DM, OR 0.16, 95% CI 0.07 to 0.36, p<0.001). Glucocorticoids were used in 98% of cases, methotrexate in 71% and azathioprine in 51%.CONCLUSION:This large multicentre cohort demonstrates the importance of extramuscular involvement in patients with IIM, its association with smoking and its influence on disease severity. Our findings emphasise that IIM is a multisystem inflammatory disease and will help inform prognosis and clinical management of patients.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Disease registrieS
Myositis
Megjelenés:Annals Of The Rheumatic Diseases. - 77 : 1 (2018), p. 30-39. -
További szerzők:Vencovsky, Jiri Wang, Guochun Wedderburn, Lucy R. Diederichsen, Louise Pyndt Schmidt, Jens Oakley, Paula Benveniste, Olivier Danieli, Maria Giovanna Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) 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 New, Paul Cooper, Robert G. Ollier, William E. Lamb, Janine A. Krogh, Niels Steen Lundberg, Ingrid Chinoy, Hector EuroMyositis contributors
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8.

001-es BibID:BIBFORM073202
035-os BibID:(WoS)000417061500008 (Scopus)85037677819
Első szerző:Lundberg, Ingrid
Cím:2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups / Ingrid E. Lundberg, Anna Tjärnlund, Matteo Bottai, Victoria P. Werth, Clarissa Pilkington, Marianne de Visser, Lars Alfredsson, Anthony A. Amato, Richard J. Barohn, Matthew H. Liang, Jasvinder A. Singh, Rohit Aggarwal, Snjolaug Arnardottir, Hector Chinoy, Robert G. Cooper, Katalin Dankó, Mazen M. Dimachkie, Brian M. Feldman, Ignacio Garcia-De La Torre, Patrick Gordon, Taichi Hayashi, James D. Katz, Hitoshi Kohsaka, Peter A. Lachenbruch, Bianca A. Lang, Yuhui Li, Chester V. Oddis, Marzena Olesinska, Ann M. Reed, Lidia Rutkowska-Sak, Helga Sanner, Albert Selva-O'Callaghan, Yeong-Wook Song, Jiri Vencovsky, Steven R. Ytterberg, Frederick W. Miller, Lisa G. Rider, International Myositis Classification Criteria Project consortium, Euromyositis register and The Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Dátum:2017
ISSN:0003-4967
Megjegyzések:OBJECTIVE:To develop and validate new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups.METHODS:Candidate variables were assembled from published criteria and expert opinion using consensus methodology. Data were collected from 47 rheumatology, dermatology, neurology and paediatric clinics worldwide. Several statistical methods were used to derive the classification criteria.RESULTS:Based on data from 976 IIM patients (74% adults; 26% children) and 624 non-IIM patients with mimicking conditions (82% adults; 18% children), new criteria were derived. Each item is assigned a weighted score. The total score corresponds to a probability of having IIM. Subclassification is performed using a classification tree. A probability cut-off of 55%, corresponding to a score of 5.5 (6.7 with muscle biopsy) 'probable IIM', had best sensitivity/specificity (87%/82% without biopsies, 93%/88% with biopsies) and is recommended as a minimum to classify a patient as having IIM. A probability of ?90%, corresponding to a score of ?7.5 (?8.7 with muscle biopsy), corresponds to 'definite IIM'. A probability of <50%, corresponding to a score of <5.3 (<6.5 with muscle biopsy), rules out IIM, leaving a probability of ?50?to <55% as 'possible IIM'.CONCLUSIONS:The European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for IIM have been endorsed by international rheumatology, dermatology, neurology and paediatric groups. They employ easily accessible and operationally defined elements, and have been partially validated. They allow classification of 'definite', 'probable' and 'possible' IIM, in addition to the major subgroups of IIM, including juvenile IIM. They generally perform better than existing criteria.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
autoimmune disease
dermatomyositis
polymyositis
Megjelenés:Annals of The Rheumatic Diseases. - 76 : 12 (2017), p. 1955-1964. -
További szerzők:Tjärnlund, Anna Bottai, Matteo Werth, Victoria P. Pilkington, Clarissa Visser, Marianne de Alfredsson, Lars Amato, Anthony A. Barohn, Richard J. Liang, Matthew H. Singh, Jasvinder A. Aggarwal, Rohit Arnardottir, Snjolaug Chinoy, Hector Cooper, Robert G. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Dimachkie, Mazen M. Feldman, Brian M. Torre, Ignacio García-De la Gordon, Patrick Hayashi, Taichi Katz, James D. Kohsaka, Hitoshi Lachenbruch, Peter A. Lang, Bianca A. Li, Yuhui Oddis, Chester V. Olesinka, Marzena Reed, Ann M. Rutkowska-Sak, Lidia Sanner, Helga Selva-O'Callaghan, Albert Song, Yeong Wook Vencovsky, Jiri Ytterberg, Steven R. Miller, Frederick W. Rider, Lisa G. International Myositis Classification Criteria Project consortium Euromyositis register and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository
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9.

001-es BibID:BIBFORM083544
035-os BibID:(WoS)000471138100032 (Scopus)85067232111
Első szerző:Rothwell, Simon
Cím:Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups / Simon Rothwell, Hector Chinoy, Janine A. Lamb, Frederick W. Miller, Lisa G. Rider, Lucy R. Wedderburn, Neil J. McHugh, Andrew L. Mammen, Zoe E. Betteridge, Sarah L. Tansley, John Bowes, Jiří Vencovský, Claire T. Deakin, Katalin Dankó, Limaye Vidya, Albert Selva-O'Callaghan, Lauren M. Pachman, Ann M. Reed, Øyvind Molberg, Olivier Benveniste, Pernille R. Mathiesen, Timothy R. D. J. Radstake, Andrea Doria, Jan de Bleecker, Annette T. Lee, Michael G. Hanna, Pedro M. Machado, William E. Ollier, Peter K. Gregersen, Leonid Padyukov, Terrance P. O'Hanlon, Robert G. Cooper, Ingrid E. Lundberg, Myositis Genetics Consortium (MYOGEN)
Dátum:2019
ISSN:0003-4967
Megjegyzések:OBJECTIVES: Idiopathic inflammatory myopathies (IIM) are a spectrum of rare autoimmune diseases characterised clinically by muscle weakness and heterogeneous systemic organ involvement. The strongest genetic risk is within the major histocompatibility complex (MHC). Since autoantibody presence defines specific clinical subgroups of IIM, we aimed to correlate serotype and genotype, to identify novel risk variants in the MHC region that co-occur with IIM autoantibodies. METHODS: We collected available autoantibody data in our cohort of 2582 Caucasian patients with IIM. High resolution human leucocyte antigen (HLA) alleles and corresponding amino acid sequences were imputed using SNP2HLA from existing genotyping data and tested for association with 12 autoantibody subgroups. RESULTS: We report associations with eight autoantibodies reaching our study-wide significance level of p<2.9?10-5. Associations with the 8.1 ancestral haplotype were found with anti-Jo-1 (HLA-B*08:01, p=2.28?10-53?and HLA-DRB1*03:01, p=3.25?10-9), anti-PM/Scl (HLA-DQB1*02:01, p=1.47?10-26) and anti-cN1A autoantibodies (HLA-DRB1*03:01, p=1.40?10-11). Associations independent of this haplotype were found with anti-Mi-2 (HLA-DRB1*07:01, p=4.92?10-13) and anti-HMGCR autoantibodies (HLA-DRB1*11, p=5.09?10-6). Amino acid positions may be more strongly associated than classical HLA associations; for example with anti-Jo-1 autoantibodies and position 74 of HLA-DRB1 (p=3.47?10-64) and position 9 of HLA-B (p=7.03?10-11). We report novel genetic associations with HLA-DQB1 anti-TIF1 autoantibodies and identify haplotypes that may differ between adult-onset and juvenile-onset patients with these autoantibodies. CONCLUSIONS: These findings provide new insights regarding the functional consequences of genetic polymorphisms within the MHC. As autoantibodies in IIM correlate with specific clinical features of disease, understanding genetic risk underlying development of autoantibody profiles has implications for future research.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
HLA
autoantibody
genetics
idiopathic inflammatory myopathy
myositis
Megjelenés:Annals Of The Rheumatic Diseases. - 78 : 7 (2019), p. 996-1002. -
További szerzők:Chinoy, Hector Lamb, Janine A. Miller, Frederick W. Rider, Lisa G. Wedderburn, Lucy R. McHugh, Neil Mammen, Andrew Betteridge, Zoe Tansley, Sarah Bowes, John Vencovsky, Jiri Deakin, Claire T. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Vidya, Limaye Selva-O'Callaghan, Albert Pachman, Lauren M. Reed, Ann M. Molberg, Øyvind Benveniste, Olivier Mathiesen, Pernille R. Radstake, Timothy R. D. J. Doria, Andrea De Bleecker, Jan Lee, Annette Hanna, Michael G. Machado, Pedro M. Ollier, William E. Gregersen, Peter K. Padyukov, Leonid O'Hanlon, Terrance P. Cooper, Robert G. Lundberg, Ingrid Myositis Genetics Consortium (MYOGEN)
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