Trait: gout

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004274
Description A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. [NCIT: C34650]
Trait category
Metabolic disorder
Synonyms 4 synonyms
  • articular gout
  • gout
  • gouty arthritis
  • gouty arthropathy
Mapped term(s) 17 mapped terms
  • COHD:440674
  • DOID:13189
  • ICD10:M10
  • ICD10:M10.9
  • ICD9:274
  • ICD9:274.0
  • ICD9:274.00
  • ICD9:274.9
  • MESH:D006073
  • MONDO:0005393
  • MSH:D006073
  • NCIT:C34650
  • NCIt:C34650
  • SCTID:190828008
  • SNOMEDCT:90560007
  • UMLS:C0003868
  • UMLS:C0018099

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000199 G-PROB_Gout PGP000081
Knevel R et al. Sci Transl Med (2020)
Gout 250 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000199/ScoringFiles/PGS000199.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
PPM000582 PGS000199 (G-PROB_Gout) PSS000311 PGP000081
Knevel R et al. (2020)
Reported Trait: Gout diagnosis in patient with arthritis AUROC: 0.85[0.8, 0.91] (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000576 PGS000199 (G-PROB_Gout) PSS000310 PGP000081
Knevel R et al. (2020)
Reported Trait: Gout diagnosis in patient with arthritis AUROC: 0.82[0.73, 0.94] (Setting II: Assigning patient diagnoses based on medical records)
PPM000570 PGS000199 (G-PROB_Gout) PSS000320 PGP000081
Knevel R et al. (2020)
Reported Trait: Gout diagnosis in patient with arthritis AUROC: 0.78[0.75, 0.8] (Setting I: Assigning patient diagnoses based on billing codes)

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000311 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 22 cases
  • , 221 controls
]
,
32.0 % Male samples
European PHCB
PSS000320 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 387 cases
  • , 824 controls
]
,
43.0 % Male samples
Other Primarily European, African and Asian ancestry eMERGE
PSS000310 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 32 cases
  • , 213 controls
]
,
32.0 % Male samples
European PHCB