| 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 |
7 synonyms
|
| Mapped terms |
10 mapped terms
|
| 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) |
|---|---|---|---|---|---|---|
| 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 |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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] | — | — | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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. | — | [ ,
51.46 % Male samples |
— | European | — | CHOP | — |
| PSS000432 | Diagnosis of JIA by a paediatric rheumatologist. | — | [ ,
58.59 % Male samples |
— | European | — | CLARITY | Cohort description (PMID): 23153063 |