Trait: oligoarticular juvenile idiopathic arthritis

Experimental Factor Ontology (EFO) Information
Identifier EFO_1002019
Description Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases. [Orphanet: 85410]
Trait category
Immune system disorder
Synonyms 12 synonyms
  • Oligoarticular JIA
  • Pauciarticular JIA
  • Pauciarticular chronic arthritis
  • Pauciarticular juvenile idiopathic arthritis
  • Pauciarticular juvenile rheumatoid arthritis (disorder)
  • Pauciarticular onset juvenile chronic arthritis
  • oligoarticular JIA
  • oligoarticular juvenile idiopathic arthritis
  • pauciarticular JIA
  • pauciarticular juvenile idiopathic arthritis
  • pauciarticular juvenile rheumatoid arthritis
  • pauciarticular onset juvenile arthritis
Mapped terms 14 mapped terms
  • GARD:4261
  • ICD10CM:M08.4
  • ICD9:714.32
  • MEDGEN:443993
  • MESH:C536312
  • MONDO:0019433
  • NANDO:1200471
  • NANDO:2201056
  • NCIT:C119032
  • NCIt:C119032
  • Orphanet:85410
  • SNOMEDCT:74391003
  • UMLS:C2931171
  • icd11.foundation:1990556904

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Additional Asian Ancestries
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Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 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
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000325/ScoringFiles/PGS000325.txt.gz

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) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000875 PGS000325
(GRS-JIA-Oli-20)
 PSS000430|
European Ancestry|
3,157 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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 —
PPM000876 PGS000325
(GRS-JIA-Oli-20)
 PSS000433|
European Ancestry|
737 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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 —
PPM000869 PGS000325
(GRS-JIA-Oli-20)
 PSS000430|
European Ancestry|
3,157 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 1.93 [1.76, 2.11] AUROC: 0.77 [0.73, 0.8] — — —
PPM000870 PGS000325
(GRS-JIA-Oli-20)
 PSS000433|
European Ancestry|
737 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 2.24 [1.88, 2.71] AUROC: 0.74 [0.7, 0.79] — — —

Evaluated Samples

PGS Sample Set ID
(PSS) 		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