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Record W2787349073 · doi:10.1002/art.40443

Brief Report: The Genetic Profile of Rheumatoid Factor–Positive Polyarticular Juvenile Idiopathic Arthritis Resembles That of Adult Rheumatoid Arthritis

2018· article· en· W2787349073 on OpenAlexafffund
Anne Hinks, Miranda C. Marion, Joanna Cobb, Mary E. Comeau, Marc Sudman, Hannah C. Ainsworth, John Bowes, Mara L. Becker, John F. Bohnsack, Johannes‐Peter Haas, Daniel J. Lovell, Elizabeth Mellins, J. Lee Nelson, Ellen Nordal, Marilynn Punaro, Ann M. Reed, Carlos D. Rosé, Alan Rosenberg, Marite Rygg, Samantha Smith, Anne M. Stevens, Vibeke Videm, Carol A. Wallace, Lucy R. Wedderburn, Annie Yarwood, Rae S. M. Yeung, Carl D. Langefeld, Susan D. Thompson, Wendy Thomson, Sampath Prahalad

Bibliographic record

VenueArthritis & Rheumatology · 2018
Typearticle
Languageen
FieldMedicine
TopicAutoimmune and Inflammatory Disorders Research
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of TorontoUniversity of Saskatchewan
FundersCanadian Arthritis NetworkCenter for Scientific ReviewNational Institute of General Medical SciencesNational Cancer InstituteCanadian Institutes of Health ResearchWake Forest School of MedicineSchool of Medicine, Emory UniversityNational Institutes of HealthHospital for Sick ChildrenArthritis Research UKMedical Research CouncilSeattle Children's Research InstituteDepartment of Health and Social CareGreat Ormond Street Hospital for ChildrenMarcus FoundationBundesministerium für Bildung und ForschungNHS Blood and TransplantNational Institute for Health and Care ResearchChildren's Healthcare of AtlantaNational Institute of Allergy and Infectious DiseasesVersus ArthritisNational Heart, Lung, and Blood InstituteChildren’s Hospital of Wisconsin Research InstituteNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Diabetes and Digestive and Kidney DiseasesNorges Teknisk-Naturvitenskapelige UniversitetWellcomeUniversity of WashingtonUniversity of TorontoWellcome TrustUniversity College LondonEmory UniversityRheumatology Research FoundationAmgenArthritis FoundationDoris Duke Charitable Foundation
KeywordsRheumatoid arthritisRheumatoid factorMedicineJuvenile rheumatoid arthritisJuvenileArthritisInternal medicineBiologyGenetics

Abstract

fetched live from OpenAlex

OBJECTIVE: Juvenile idiopathic arthritis (JIA) comprises 7 heterogeneous categories of chronic childhood arthritides. Approximately 5% of children with JIA have rheumatoid factor (RF)-positive arthritis, which phenotypically resembles adult rheumatoid arthritis (RA). Our objective was to compare and contrast the genetics of RF-positive polyarticular JIA with those of RA and selected other JIA categories, to more fully understand the pathophysiologic relationships of inflammatory arthropathies. METHODS: Patients with RF-positive polyarticular JIA (n = 340) and controls (n = 14,412) were genotyped using the Immunochip array. Single-nucleotide polymorphisms were tested for association using a logistic regression model adjusting for admixture proportions. We calculated weighted genetic risk scores (wGRS) of reported RA and JIA risk loci, and we compared the ability of these wGRS to predict RF-positive polyarticular JIA. RESULTS: ). Nineteen of 44 RA risk loci and 6 of 27 oligoarticular/RF-negative polyarticular JIA risk loci were associated with RF-positive polyarticular JIA (P < 0.05). The RA wGRS predicted RF-positive polyarticular JIA (area under the curve [AUC] 0.71) better than did the oligoarticular/RF-negative polyarticular JIA wGRS (AUC 0.59). The genetic profile of patients with RF-positive polyarticular JIA was more similar to that of RA patients with age at onset 16-29 years than to that of RA patients with age at onset ≥70 years. CONCLUSION: RF-positive polyarticular JIA is genetically more similar to adult RA than to the most common JIA categories and thus appears to be a childhood-onset presentation of autoantibody-positive RA. These findings suggest common disease mechanisms, which could lead to novel therapeutic targets and shared treatment strategies.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.011
Threshold uncertainty score0.035

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0110.003

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.013
GPT teacher head0.262
Teacher spread0.249 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations72
Published2018
Admission routes2
Has abstractyes

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