Trait: oligoarticular juvenile idiopathic arthritis

Experimental Factor Ontology (EFO) Information
Identifier EFO_1002019
Description A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting between one and four separate joints during the first six months of disease.
Trait category
Immune system disorder
Synonyms 12 synonyms
  • pauciarticular juvenile rheumatoid arthritis
  • Oligoarticular JIA
  • pauciarticular juvenile idiopathic arthritis
  • Pauciarticular JIA
  • oligoarticular juvenile idiopathic arthritis
  • Pauciarticular juvenile rheumatoid arthritis (disorder)
  • oligoarticular JIA
  • pauciarticular onset juvenile arthritis
  • pauciarticular JIA
  • Pauciarticular onset juvenile chronic arthritis
  • Pauciarticular chronic arthritis
  • Pauciarticular juvenile idiopathic arthritis
Mapped term(s) 11 mapped terms
  • NCIt:C119032
  • ICD9:714.32
  • MESH:C536312
  • Orphanet:85410
  • ICD10:M08.4
  • UMLS:C3898105
  • GARD:0004261
  • MONDO:0019433
  • UMLS:C2931171
  • SNOMEDCT:74391003
  • NCIT:C119032

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)
PGS000325 GRS-JIA-Oli-20 PGP000052 Cánovas R et al. Ann Rheum Dis (2020) Oligoarthritis Juvenile Idiophatic Arthritis oligoarticular juvenile idiopathic arthritis 21 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000325/ScoringFiles/PGS000325.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
PPM000870 PGS000325 (GRS-JIA-Oli-20) PSS000433 PGP000052
Cánovas R et al. (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 2.24[1.88, 2.71] AUROC: 0.74[0.7, 0.79]
PPM000869 PGS000325 (GRS-JIA-Oli-20) PSS000430 PGP000052
Cánovas R et al. (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 1.93[1.76, 2.11] AUROC: 0.77[0.73, 0.8]
PPM000876 PGS000325 (GRS-JIA-Oli-20) PSS000433 PGP000052
Cánovas R et al. (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 2.19[1.81, 2.71] AUROC: 0.79[0.76, 0.83] sex, genetic PCs 1-10
PPM000875 PGS000325 (GRS-JIA-Oli-20) PSS000430 PGP000052
Cánovas R et al. (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 1.93[1.75, 2.13] AUROC: 0.8[0.77, 0.84] sex, genetic PCs 1-10

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
PSS000430 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.
[
  • 203 cases
  • , 2,954 controls
]
,
49.19 % Male samples
European CHOP
PSS000433 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 159 cases
  • , 578 controls
]
,
51.15 % Male samples
European CLARITY Cohort description (PMID): 23153063