Trait: juvenile idiopathic arthritis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002609
Description Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). [Orphanet: 92]
Trait category
Immune system disorder
Synonyms 17 synonyms
  • Juvenile Rheumatoid Arthritis
  • juvenile arthritis
  • JIA
  • breast myoepithelial carcinoma
  • Juvenile rheumatoid arthritis (disorder)
  • arthritis, juvenile rheumatoid
  • juvenile idiopathic arthritis
  • Juvenile rheumatoid a.
  • Juvenile rheumatoid arthritis, NOS
  • juvenile rheumatoid arthritis
  • Juvenile idiopathic arthritis
  • Juvenile chronic arthritis (disorder)
  • Juvenile rheumatoid arthritis NOS (disorder)
  • Arthritis (juvenile idiopathic)
  • Juvenile seropositive polyarthritis
  • Juvenile idiopathic arthritis (disorder)
  • chronic childhood arthritis
Mapped term(s) 29 mapped terms
  • MESH:D001171
  • ICD10:M08.8
  • ICD10:M08.9
  • ICD10:M08.4
  • ICD10:M08.2
  • DOID:676
  • OMIM:604302
  • ICD10:M08.3
  • SCTID:410502007
  • ICD10:M08.0
  • ICD10:M08.1
  • Wikipedia:Juvenile_idiopathic_arthritis
  • MSH:D001171
  • NCIt:C27179
  • ICD10:M08
  • NCIt:C114357
  • MedDRA:10059177
  • NCIT:C114357
  • ICD10:M08.40
  • SNOMEDCT:410796000
  • COHD:75622
  • ICD9:714.32
  • ICD9:714.3
  • ICD9:714.33
  • SNOMEDCT:410795001
  • ICD9:714.31
  • MONDO:0011429
  • UMLS:C0553662
  • Orphanet:92

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000114 GRS-JIA-20 PGP000052
Canovas R et al. medRxiv (2020)
Juvenile Idiopathic Arthritis 26 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000114/ScoringFiles/PGS000114.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 PGS Model PGS Performance: Other Relevant Information
PPM000260 PGS000114 (GRS-JIA-20) PSS000179 PGP000052
Canovas R et al. (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 1.831[1.685, 1.991] AUROC: 0.657[0.631, 0.683]
PPM000261 PGS000114 (GRS-JIA-20) PSS000180 PGP000052
Canovas R et al. (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 2.008[1.731, 2.345] AUROC: 0.671[0.635, 0.706]
PPM000262 PGS000114 (GRS-JIA-20) PSS000179 PGP000052
Canovas R et al. (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 1.838[1.686, 2.007] AUROC: 0.735[0.712, 0.758] sex, genetic PCs 1-10
PPM000263 PGS000114 (GRS-JIA-20) PSS000180 PGP000052
Canovas R et al. (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 2.085[1.773, 2.471] AUROC: 0.738[0.705, 0.77] sex, genetic PCs 1-10

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000179 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.
[
  • 559 cases
  • , 2,954 controls
]
,
47.5 % Male samples
European CHOP
PSS000180 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 362 cases
  • , 578 controls
]
,
48.9 % Male samples
European CLARITY Cohort description (PMID): 23153063