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1.

001-es BibID:BIBFORM073206
Első szerző:Bottai, Matteo
Cím:EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups : a methodology report / Matteo Bottai, Anna Tjärnlund, Giola Santoni, 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 Danko, Mazen M. Dimachkie, Brian M. Feldman, Ignacio García-De La Torre, Patrick Gordon, Taichi Hayashi, James D. Katz, Hitoshi Kohsaka, Peter A. Lachenbruch, Bianca A. Lang, Yuhui Li, Chester V. Oddis, Marzena Olesinka, 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, Ingrid E. Lundberg, International Myositis Classification Criteria Project consortium, Euromyositis register and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Dátum:2017
ISSN:2056-5933
Megjegyzések:OBJECTIVE:To describe the methodology used to develop new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIMs) and their major subgroups.METHODS:An international, multidisciplinary group of myositis experts produced a set of 93 potentially relevant variables to be tested for inclusion in the criteria. Rheumatology, dermatology, neurology and paediatric clinics worldwide collected data on 976 IIM cases (74% adults, 26% children) and 624 non-IIM comparator cases with mimicking conditions (82% adults, 18% children). The participating clinicians classified each case as IIM or non-IIM. Generally, the classification of any given patient was based on few variables, leaving remaining variables unmeasured. We investigated the strength of the association between all variables and between these and the disease status as determined by the physician. We considered three approaches: (1) a probability-score approach, (2) a sum-of-items approach criteria and (3) a classification-tree approach.RESULTS:The approaches yielded several candidate models that were scrutinised with respect to statistical performance and clinical relevance. The probability-score approach showed superior statistical performance and clinical practicability and was therefore preferred over the others. We developed a classification tree for subclassification of patients with IIM. A calculator for electronic devices, such as computers and smartphones, facilitates the use of the European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria.CONCLUSIONS:The new EULAR/ACR classification criteria provide a patient's probability of having IIM for use in clinical and research settings. The probability is based on a score obtained by summing the weights associated with a set of criteria items
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
autoimmune diseases
dermatomyositis
polymyositis
Megjelenés:RMD Open. - 3 : 2 (2017), p. 1-10. -
További szerzők:Tjärnlund, Anna Santoni, Giola 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. Lundberg, Ingrid International Myositis Classification Criteria Project consortium Euromyositis register and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository
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2.

001-es BibID:BIBFORM047187
035-os BibID:PMID:22732951
Első szerző:Labirua-Iturburu, Ane
Cím:Anti-PL-7 (anti-threonyl-tRNA synthetase) antisynthetase syndrome : clinical manifestations in a series of patients from a European multicenter study (EUMYONET) and review of the literature / Ane Labirua-Iturburu, Albert Selva-O'Callaghan, Melinda Vincze, Katalin Dankó, Jiri Vencovsky, Benjamin Fisher, Peter Charles, Maryam Dastmalchi, Ingrid E. Lundberg
Dátum:2012
ISSN:0025-7974
Megjegyzések:Autoantibodies against several aminoacyl-transfer-RNA synthetases have been described in patients with myositis; anti-threonyl-tRNA synthetase (anti-PL-7) is one of the rarest. We describe the clinical and laboratory characteristics of a cohort of European anti-PL-7 patients, and compare them with previously reported cases. This multicenter study of patients positive for anti-PL-7, identified between 1984 and 2011, derives from the EUMYONET cohort. Clinical and serologic data were obtained by retrospective laboratory and medical record review, and statistical analyses were performed with chi-squared and Fisher exact tests. Eighteen patients, 15 women, were anti-PL-7 antibody positive. Median follow-up was 5.25 years (interquartile range, 2.8-10.7 yr), and 4 patients died. All patients had myositis (12 polymyositis, 5 dermatomyositis, and 1 amyopathic dermatomyositis), 10 (55.6%) had interstitial lung disease, and 9 (50%) had pericardial effusion. Occupational exposure to organic/inorganic particles was more frequent in patients with interstitial lung disease than in the remaining patients (5 of 10 vs. 1 of 7; p = 0.152), although the difference was not significant. Concurrent autoantibodies against Ro60 and Ro52 were seen in 8 of 14 (57%) patients studied. In the literature review the most common manifestations of anti-PL-7 antisynthetase syndrome were interstitial lung disease (77%), myositis (75%), and arthritis (56%). As in other subsets of the antisynthetase syndrome, myositis and interstitial lung disease are common features of the anti-PL-7 antisynthetase syndrome. In addition, we can add pericarditis as a possible manifestation related to anti-PL-7 antibodies.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Medicine 91 : 4 (2012), p. 206-211. -
További szerzők:Selva-O'Callaghan, Albert Nagy-Vincze Melinda (1985-) (orvos) Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Vencovsky, Jiri Fisher, Benjamin Charles, Peter Dastmalchi, Maryam Lundberg, Ingrid
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3.

001-es BibID:BIBFORM073201
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 Danko, 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:2326-5191
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 pediatric clinics worldwide. Several statistical methods were utilized 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 cutoff 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-<55% as "possible IIM."CONCLUSION:The European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for IIM have been endorsed by international rheumatology, dermatology, neurology, and pediatric 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
Megjelenés:Arthritis & Rheumatology 69 : 12 (2017), p. 2271-2282. -
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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4.

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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5.

001-es BibID:BIBFORM073044
Első szerző:Miller, Frederick W.
Cím:Genome-wide Association Study Identifies HLA 8.1 Ancestral Haplotype Alleles as Major Genetic Risk Factors for Myositis Phenotypes / Frederick W. Miller, Wei Chen, Terrance P. O'Hanlon, Robert G. Cooper, Jiri Vencovsky, Lisa G. Rider, Katalin Danko, Lucy R. Wedderburn, Ingrid E. Lundberg, Lauren M. Pachman, Ann M. Reed, Steven R. Ytterberg, Leonid Padyukov, Albert SelvaO'Callaghan, Timothy R. Radstake, David A. Isenberg, Hector Chinoy, William E. R. Ollier, Paul Scheet, Bo Peng, Annette Lee, Jinyoung Byun, Janine A. Lamb, Peter K. Gregersen, Christopher I. Amos, the Myositis Genetics Consortium
Dátum:2015
ISSN:1466-4879 1476-5470
Megjegyzések:Autoimmune muscle diseases (myositis) comprise a group of complex phenotypes influenced by genetic and environmental factors. To identify genetic risk factors in patients of European ancestry, we conducted a genome-wide association study (GWAS) of the major myositis phenotypes in a total of 1710 cases, which included 705 adult dermatomyositis; 473 juvenile dermatomyositis; 532 polymyositis; and 202 adult dermatomyositis, juvenile dermatomyositis or polymyositis patients with anti-histidyl tRNA synthetase (anti-Jo-1) autoantibodies, and compared them with 4724 controls. Single-nucleotide polymorphisms showing strong associations (P < 5 ? 10?8) in GWAS were identified in the major histocompatibility complex (MHC) region for all myositis phenotypes together, as well as for the four clinical and autoantibody phenotypes studied separately. Imputation and regression analyses found that alleles comprising the human leukocyte antigen (HLA) 8.1 ancestral haplotype (AH8.1) defined essentially all the genetic risk in the phenotypes studied. Although the HLA DRB1*03:01 allele showed slightly stronger associations with adult and juvenile dermatomyositis, and HLA B*08:01 with polymyositis and anti-Jo-1 autoantibody-positive myositis, multiple alleles of AH8.1 were required for the full risk effects. Our findings establish that alleles of the AH8.1haplotype comprise the primary genetic risk factors associated with the major myositis phenotypes in geographically diverse Caucasian populations.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
polymyositis
dermatomyositis
adult
juvenile
anti-Jo-1 autoantibodies
HLA 8.1 ancestral haplotype
Megjelenés:Genes And Immunity 16 : 7 (2015), p. 470-480. -
További szerzők:Chen, Wei O'Hanlon, Terrance P. Cooper, Robert G. Vencovsky, Jiri Rider, Lisa G. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Wedderburn, Lucy R. Lundberg, Ingrid Pachman, Lauren M. Reed, Ann M. Ytterberg, Steven R. Padyukov, Leonid Selva-O'Callaghan, Albert Radstake, Timothy R. D. J. Isenberg, David A. Chinoy, Hector Ollier, William E. Scheet, Paul Peng, Bo Lee, Annette Byun, Jinyoung Lamb, Janine A. Gregersen, Peter K. Amos, Christopher I. the Myositis Genetics Consortium
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6.

001-es BibID:BIBFORM051365
Első szerző:Miller, Frederick W.
Cím:Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders / Frederick W. Miller, Robert G. Cooper, Jiří Vencovský, Lisa G. Rider, Katalin Danko, Lucy R. Wedderburn, Ingrid E. Lundberg, Lauren M. Pachman, Ann M. Reed, Steven R. Ytterberg, Leonid Padyukov, Albert Selva-O'Callaghan, Timothy R. D. J. Radstake, David A. Isenberg, Hector Chinoy, William E. R. Ollier, Terrance P. O'Hanlon, Bo Peng, Annette Lee, Janine A. Lamb, Wei Chen, Christopher I. Amos, Peter K. Gregersen, Myositis Genetics Consortium
Dátum:2013
ISSN:0004-3591
Megjegyzések:OBJECTIVE:To identify new genetic associations with juvenile and adult dermatomyositis (DM).METHODS:We 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.RESULTS:Compared 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.CONCLUSION:Our 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.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Arthritis and Rheumatism. - 65 : 12 (2013), p. 3239-3247. -
További szerzők:Cooper, Robert G. Vencovsky, Jiri Rider, Lisa G. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Wedderburn, Lucy R. Lundberg, Ingrid Pachman, Lauren M. Reed, Ann M. Ytterberg, Steven R. Padyukov, Leonid Selva-O'Callaghan, Albert Radstake, Timothy R. D. J. Isenberg, David A. Chinoy, Hector Ollier, William E. O'Hanlon, Terrance P. Peng, Bo Lee, Annette Lamb, Janine A. Chen, Wei Amos, Christopher I. Gregersen, Peter K. Myositis Genetics Consortium
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7.

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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8.

001-es BibID:BIBFORM073204
Első szerző:Rothwell, Simon
Cím:Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum / Simon Rothwell, Robert G. Cooper, Ingrid E. Lundberg, Peter K. Gregersen, Michael G. Hanna, Pedro M. Machado, Megan K. Herbert, Ger J. M. Pruijn, James B. Lilleker, Mark Roberts, John Bowes, Michael F. Seldin, Jiri Vencovsky, Katalin Danko, Vidya Limaye, Albert Selva-O'Callaghan, Hazel Platt, Øyvind Molberg, Olivier Benveniste, Timothy R. D. J. Radstake, Andrea Doria, Jan De Bleecker, Boel De Paepe, Christian Gieger, Thomas Meitinger, Juliane Winkelmann, Christopher I. Amos, William E. Ollier, Leonid Padyukov, Annette T. Lee, Janine A. Lamb, Hector Chinoy, Myositis Genetics Consortium
Dátum:2017
ISSN:2326-5191
Megjegyzések:OBJECTIVE:Inclusion body myositis (IBM) is characterized by a combination of inflammatory and degenerative changes affecting muscle. While the primary cause of IBM is unknown, genetic factors may influence disease susceptibility. To determine genetic factors contributing to the etiology of IBM, we conducted the largest genetic association study of the disease to date, investigating immune-related genes using the Immunochip.METHODS:A total of 252 Caucasian patients with IBM were recruited from 11 countries through the Myositis Genetics Consortium and compared with 1,008 ethnically matched controls. Classic HLA alleles and amino acids were imputed using SNP2HLA.RESULTS:The HLA region was confirmed as the most strongly associated region in IBM (P?=?3.58 ? 10-33 ). HLA imputation identified 3 independent associations (with HLA-DRB1*03:01, DRB1*01:01, and DRB1*13:01), although the strongest association was with amino acid positions 26 and 11 of the HLA-DRB1 molecule. No association with anti-cytosolic 5'-nucleotidase 1A-positive status was found independent of HLA-DRB1*03:01. There was no association of HLA genotypes with age at onset of IBM. Three non-HLA regions reached suggestive significance, including the chromosome 3 p21.31 region, an established risk locus for autoimmune disease, where a frameshift mutation in CCR5 is thought to be the causal variant.CONCLUSION:This is the largest, most comprehensive genetic association study to date in IBM. The data confirm that HLA is the most strongly associated region and identifies novel amino acid associations that may explain the risk in this locus. These amino acid associations differentiate IBM from polymyositis and dermatomyositis and may determine properties of the peptide-binding groove, allowing it to preferentially bind autoantigenic peptides. A novel suggestive association within the chromosome 3 p21.31 region suggests a role for CCR5
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Arthritis & Rheumatology 69 : 5 (2017), p. 1090-1099. -
További szerzők:Cooper, Robert G. Lundberg, Ingrid Gregersen, Peter K. Hanna, Michael G. Machado, Pedro M. Herbert, Megan K. Pruijn, Ger J. M. Lilleker, James B. Roberts, Mark Bowes, John Seldin, Michael F. Vencovsky, Jiri Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Limaye, Vidya Selva-O'Callaghan, Albert Platt, Hazel Molberg, Øyvind Benveniste, Olivier Radstake, Timothy R. D. J. Doria, Andrea De Bleecker, Jan De Paepe, Boel Gieger, Christian Meitinger, Thomas Winkelmann, Juliane Amos, Christopher I. Ollier, William E. Padyukov, Leonid Lee, Annette Lamb, Janine A. Chinoy, Hector Myositis Genetics Consortium
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