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Record W4206979568 · doi:10.1002/acr2.11404

Examining Health Outcomes in Juvenile Idiopathic Arthritis: A Genetic Epidemiology Study

2022· article· en· W4206979568 on OpenAlexfundno aff
Sarah L. N. Clarke, Rebecca C. Richmond, Jie Zheng, Wes Spiller, Athimalaipet V Ramanan, Gemma C. Sharp, Caroline L. Relton

Bibliographic record

VenueACR Open Rheumatology · 2022
Typearticle
Languageen
FieldMedicine
TopicAutoimmune and Inflammatory Disorders Research
Canadian institutionsnot available
FundersMedical Research CouncilMedical Research Council CanadaWellcome Trust
KeywordsMedicineMendelian randomizationInternal medicineOdds ratioArthritisGenetic correlationPhysical therapyGeneticsGenetic variationGenotypeEnvironmental healthBiologyPopulation

Abstract

fetched live from OpenAlex

Objective Juvenile idiopathic arthritis (JIA) is the most common pediatric rheumatic disease; however, little is known about its wider health impacts. This study explores health outcomes associated with JIA genetic liability. Methods We used publicly available genetic data sets to interrogate the genetic correlation between JIA and 832 other health‐related traits using linkage disequilibrium score regression. Two‐sample Mendelian randomization (2SMR) was used to examine four genetic correlates for evidence of causality. Results We found robust evidence (adjusted P [ P adj ] < 0.05) of genetic correlation between JIA and rheumatoid arthritis (genetic correlation [ r g ] = 0.63, P adj = 0.029), hypothyroidism/myxedema ( r g = 0.61, P adj = 0.041), celiac disease (CD) ( r g = 0.58, P adj = 0.032), systemic lupus erythematosus ( r g = 0.40, P adj = 0.032), coronary artery disease (CAD) ( r g = 0.42, P adj = 0.006), number of noncancer illnesses ( r g = 0.42, P adj = 0.016), paternal health ( r g = 0.57, P adj = 0.032), and strenuous sports ( r g = −0.52, P adj = 0.032). 2SMR analyses found robust evidence that genetic liability to JIA was causally associated with the number of noncancer illnesses reported by UK Biobank (UKBB) participants (increase of 0.03 noncancer illnesses per doubling odds of JIA, 95% confidence interval 0.01‐0.05). Conclusion This study illustrates genetic sharing between JIA and a diversity of health outcomes. The causal association between genetic liability to JIA and noncancer illnesses suggests a need for broader health assessments of patients with JIA to reduce their potential comorbid burden. The strength of genetic correlation with hypothyroidism and CD implies that patients with JIA may benefit from CD and thyroid function screening. Strong positive genetic correlation between JIA and CAD supports the need for cardiovascular risk assessment and risk factor modification.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.005
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.024
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0050.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.002
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.092
GPT teacher head0.388
Teacher spread0.296 · 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 teacher head, not a consensus.

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

Citations8
Published2022
Admission routes1
Has abstractyes

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