Trait: polyarticular juvenile idiopathic arthritis, rheumatoid factor negative

Experimental Factor Ontology (EFO) Information
Identifier EFO_1002020
Description A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with negative serologic testing for rheumatoid factor.
Trait category
Immune system disorder
Synonyms 5 synonyms
  • rheumatoid factor-negative juvenile idiopathic arthritis
  • rheumatoid factor negative juvenile idiopathic arthritis
  • polyarthritis without rheumatoid factor
  • juvenile rheumatoid factor-negative polyarthritis
  • rheumatoid factor-negative JIA
Mapped term(s) 4 mapped terms
  • MONDO:0019432
  • ICD10:M08.3
  • Orphanet:85408
  • NCIt:C119033

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000326 GRS-JIA-RFN-20 PGP000052 Cánovas R et al. Ann Rheum Dis (2020) Rheumatoid-factor-negative Polyarthritis (Juvenile Idiophatic Arthritis) polyarticular juvenile idiopathic arthritis, rheumatoid factor negative 12 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000326/ScoringFiles/PGS000326.txt.gz

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance Metric ID
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000878 PGS000326 (GRS-JIA-RFN-20) PSS000434 PGP000052
Cánovas R et al. (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.71[1.42, 2.07] AUROC: 0.74[0.68, 0.8] sex, genetic PCs 1-10
PPM000877 PGS000326 (GRS-JIA-RFN-20) PSS000431 PGP000052
Cánovas R et al. (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.51[1.35, 1.68] AUROC: 0.76[0.72, 0.8] sex, genetic PCs 1-10
PPM000872 PGS000326 (GRS-JIA-RFN-20) PSS000434 PGP000052
Cánovas R et al. (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.69[1.42, 2.02] AUROC: 0.66[0.59, 0.73]
PPM000871 PGS000326 (GRS-JIA-RFN-20) PSS000431 PGP000052
Cánovas R et al. (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.48[1.33, 1.64] AUROC: 0.64[0.59, 0.69]

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000431 JIA diagnosis was made according to International League of Associations for Rheumatology standards (PMID:14760812) from EHR. Control subjects were unrelated and disease-free children.
[
  • 135 cases
  • , 2,954 controls
]
,
50.11 % Male samples
European CHOP
PSS000434 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 75 cases
  • , 578 controls
]
,
54.82 % Male samples
European CLARITY Cohort description (PMID): 23153063