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 27 synonyms
  • Arthritis (juvenile idiopathic)
  • Arthritis, Juvenile Rheumatoid
  • JIA
  • Juvenile Rheumatoid Arthritis
  • Juvenile chronic arthritis (disorder)
  • Juvenile idiopathic arthritis
  • Juvenile idiopathic arthritis (disorder)
  • Juvenile rheumatoid a.
  • Juvenile rheumatoid arthritis (disorder)
  • Juvenile rheumatoid arthritis NOS (disorder)
  • Juvenile rheumatoid arthritis, NOS
  • Juvenile seropositive polyarthritis
  • acute juvenile rheumatoid arthritis
  • arthritis, juvenile rheumatoid
  • breast myoepithelial carcinoma
  • chronic childhood arthritis
  • juvenile arthritis
  • juvenile chronic arthritis
  • juvenile chronic polyarthritis
  • juvenile idiopathic arthritis
  • juvenile rheumatoid arthritis
  • monarticular juvenile rheumatoid arthritis
  • pauciarticular juvenile arthritis
  • pauciarticular onset juvenile chronic arthritis
  • rheumatoid arthritis, systemic juvenile
  • rheumatoid arthritis, systemic juvenile, susceptibility to
  • systemic juvenile rheumatoid arthritis
Mapped terms 31 mapped terms
  • DOID:676
  • GARD:18677
  • ICD10:M08
  • ICD10CM:M08.4
  • ICD9:714.3
  • ICD9:714.31
  • ICD9:714.32
  • ICD9:714.33
  • MEDGEN:760659
  • MESH:D001171
  • MONDO:0011429
  • MeSH:D001171
  • MedDRA:10059176
  • MedDRA:10059177
  • NANDO:1200469
  • NANDO:2200415
  • NCIT:C114357
  • NCIT:C26979
  • NCIt:C114357
  • NCIt:C27179
  • NORD:808
  • OMIM:604302
  • Orphanet:92
  • SCTID:410502007
  • SCTID:74391003
  • SNOMEDCT:410795001
  • SNOMEDCT:410796000
  • UMLS:C0553662
  • UMLS:C3495559
  • Wikipedia:Juvenile_idiopathic_arthritis
  • icd11.foundation:1322678686
Child trait(s) 3 child traits

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "juvenile idiopathic arthritis" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS000114
(GRS-JIA-20)
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Juvenile Idiopathic Arthritis juvenile idiopathic arthritis 26
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000114/ScoringFiles/PGS000114.txt.gz
PGS000324
(GRS-JIA-ERA-20)
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Enthesitis-related Juvenile Idiophatic Arthritis enthesitis-related juvenile idiopathic arthritis 138
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000324/ScoringFiles/PGS000324.txt.gz
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
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
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000326/ScoringFiles/PGS000326.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
PPM000262 PGS000114
(GRS-JIA-20)
 PSS000179|
European Ancestry|
3,513 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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|
European Ancestry|
940 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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 —
PPM000260 PGS000114
(GRS-JIA-20)
 PSS000179|
European Ancestry|
3,513 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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|
European Ancestry|
940 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Juvenile Idiopathic Arthritis OR: 2.008 [1.731, 2.345] AUROC: 0.671 [0.635, 0.706] — — —
PPM000874 PGS000324
(GRS-JIA-ERA-20)
 PSS000432|
European Ancestry|
594 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Enthesitis-related Arthritis OR: 3.09 [2.07, 5.04] AUROC: 0.93 [0.86, 0.99] — sex, genetic PCs 1-10 —
PPM000873 PGS000324
(GRS-JIA-ERA-20)
 PSS000429|
European Ancestry|
3,020 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Enthesitis-related Arthritis OR: 1.86 [1.61, 2.14] AUROC: 0.75 [0.68, 0.82] — sex, genetic PCs 1-10 —
PPM000867 PGS000324
(GRS-JIA-ERA-20)
 PSS000429|
European Ancestry|
3,020 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Enthesitis-related Arthritis OR: 1.84 [1.6, 2.17] AUROC: 0.7 [0.63, 0.77] — — —
PPM000868 PGS000324
(GRS-JIA-ERA-20)
 PSS000432|
European Ancestry|
594 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Enthesitis-related Arthritis OR: 2.99 [2.11, 4.54] AUROC: 0.84 [0.71, 0.97] — — —
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] — — —
PPM000878 PGS000326
(GRS-JIA-RFN-20)
 PSS000434|
European Ancestry|
653 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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 —
PPM000872 PGS000326
(GRS-JIA-RFN-20)
 PSS000434|
European Ancestry|
653 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
 Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.69 [1.42, 2.02] AUROC: 0.66 [0.59, 0.73] — — —
PPM000877 PGS000326
(GRS-JIA-RFN-20)
 PSS000431|
European Ancestry|
3,089 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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 —
PPM000871 PGS000326
(GRS-JIA-RFN-20)
 PSS000431|
European Ancestry|
3,089 individuals
 PGP000052 |
Cánovas R et al. Ann Rheum Dis (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) 		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
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
PSS000429 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. —
[
  • 66 cases
  • , 2,954 controls
]
,
51.46 % Male samples
 — European — CHOP —
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 —
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 —
PSS000432 Diagnosis of JIA by a paediatric rheumatologist. —
[
  • 16 cases
  • , 578 controls
]
,
58.59 % Male samples
 — European — CLARITY Cohort description (PMID): 23153063
PSS000433 Diagnosis of JIA by a paediatric rheumatologist. —
[
  • 159 cases
  • , 578 controls
]
,
51.15 % Male samples
 — European — CLARITY Cohort description (PMID): 23153063
PSS000434 Diagnosis of JIA by a paediatric rheumatologist. —
[
  • 75 cases
  • , 578 controls
]
,
54.82 % Male samples
 — European — CLARITY Cohort description (PMID): 23153063