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
  • MeSH:D006073
  • NCIT:C34650
  • NCIt:C34650
  • SCTID:190828008
  • SNOMEDCT:90560007
  • UMLS:C0003868
  • UMLS:C0018099

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
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)
PGS000199
(G-PROB_Gout)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Gout gout 250
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000199/ScoringFiles/PGS000199.txt.gz
PGS000711
(HC328)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Gout gout 183,332
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000711/ScoringFiles/PGS000711.txt.gz - Check Terms/Licenses

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
PPM000570 PGS000199
(G-PROB_Gout)
PSS000320|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (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)
PPM000576 PGS000199
(G-PROB_Gout)
PSS000310|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (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)
PPM000582 PGS000199
(G-PROB_Gout)
PSS000311|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (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)
PPM001616 PGS000711
(HC328)
PSS000816|
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Gout HR: 1.58 [1.51, 1.65] C-index: 0.673 Age as time scale, sex, batch, PCs(1-10)
PPM001603 PGS000711
(HC328)
PSS000815|
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Gout AUROC: 0.7107 Age, sex, PCs(1-10)

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
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 PHB
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 PHB
PSS000816 ICD-10 M10
[
  • 1,936 cases
  • , 133,364 controls
]
European
(Finnish)
FinnGen
PSS000815 87,413 individuals European UKB
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
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE