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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:BIBFORM073210
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: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheu / 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:2326-5191
Megjegyzések:OBJECTIVE:To develop response criteria for adult dermatomyositis (DM) and polymyositis (PM).METHODS: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.RESULTS:Consensus was reached for a conjoint analysis-based continuous model using absolute percent 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).CONCLUSION:The response criteria for adult DM/PM consisted of the conjoint analysis model based on absolute percent change in 6 core set measures, with thresholds for minimal, moderate, and major improvement.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Arthritis & Rheumatology 69 : 5 (2017), p. 898-910. -
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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3.

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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4.

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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5.

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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6.

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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7.

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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