Trait: enthesitis-related juvenile idiopathic arthritis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009732
Description Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
Trait category
Immune system disorder
Synonyms 3 synonyms
  • enthesitis-related JIA
  • era
  • enthesitis-related juvenile idiopathic arthritis
Mapped term(s) 7 mapped terms
  • ICD10:M08.8
  • NCIT:C119024
  • MONDO:0019437
  • GARD:0010969
  • SCTID:410801005
  • Orphanet:85438
  • PMID:14760812

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)
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 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000324/ScoringFiles/PGS000324.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
PPM000873 PGS000324 (GRS-JIA-ERA-20) PSS000429 PGP000052
Cánovas R et al. (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
PPM000868 PGS000324 (GRS-JIA-ERA-20) PSS000432 PGP000052
Cánovas R et al. (2020)
Reported Trait: Enthesitis-related Arthritis OR: 2.99[2.11, 4.54] AUROC: 0.84[0.71, 0.97]
PPM000867 PGS000324 (GRS-JIA-ERA-20) PSS000429 PGP000052
Cánovas R et al. (2020)
Reported Trait: Enthesitis-related Arthritis OR: 1.84[1.6, 2.17] AUROC: 0.7[0.63, 0.77]
PPM000874 PGS000324 (GRS-JIA-ERA-20) PSS000432 PGP000052
Cánovas R et al. (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

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
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
PSS000432 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 16 cases
  • , 578 controls
]
,
58.59 % Male samples
European CLARITY Cohort description (PMID): 23153063