Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_1002020 |
Description | A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with negative serologic testing for rheumatoid factor. | Trait category |
Immune system disorder
|
Synonyms |
5 synonyms
|
Mapped term(s) |
4 mapped terms
|
Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS Scoring File (FTP Link) |
---|---|---|---|---|---|---|
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 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000326/ScoringFiles/PGS000326.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM000878 | PGS000326 (GRS-JIA-RFN-20) | PSS000434 | PGP000052 Cánovas R et al. (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 | — |
PPM000877 | PGS000326 (GRS-JIA-RFN-20) | PSS000431 | PGP000052 Cánovas R et al. (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 | — |
PPM000872 | PGS000326 (GRS-JIA-RFN-20) | PSS000434 | PGP000052 Cánovas R et al. (2020) |
Reported Trait: Rheumatoid-factor-negative Polyarthritis | OR: 1.69 [1.42, 2.02] | AUROC: 0.66 [0.59, 0.73] | — | — | — |
PPM000871 | PGS000326 (GRS-JIA-RFN-20) | PSS000431 | PGP000052 Cánovas R et al. (2020) |
Reported Trait: Rheumatoid-factor-negative Polyarthritis | OR: 1.48 [1.33, 1.64] | AUROC: 0.64 [0.59, 0.69] | — | — | — |
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 |
---|---|---|---|---|---|---|---|---|
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. | — | [ ,
50.11 % Male samples |
— | European | — | CHOP | — |
PSS000434 | Diagnosis of JIA by a paediatric rheumatologist. | — | [ ,
54.82 % Male samples |
— | European | — | CLARITY | Cohort description (PMID): 23153063 |