Trait: polyarticular juvenile idiopathic arthritis, rheumatoid factor negative

Experimental Factor Ontology (EFO) Information
Identifier EFO_1002020
Description Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset. [Orphanet: 85408]
Trait category
Immune system disorder
Synonyms 5 synonyms
  • juvenile rheumatoid factor-negative polyarthritis
  • polyarthritis without rheumatoid factor
  • rheumatoid factor negative juvenile idiopathic arthritis
  • rheumatoid factor-negative JIA
  • rheumatoid factor-negative juvenile idiopathic arthritis
Mapped term(s) 4 mapped terms
  • ICD10:M08.3
  • MONDO:0019432
  • NCIt:C119033
  • Orphanet:85408

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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

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
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
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
PSS000434 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 75 cases
  • , 578 controls
]
,
54.82 % Male samples
European CLARITY Cohort description (PMID): 23153063