Polygenic Score (PGS) ID: PGS004130

Predicted Trait
Reported Trait Gout
Mapped Trait(s) gout (EFO_0004274)
Released in PGS Catalog: Dec. 19, 2023
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Score Details

Score Construction
PGS Name pt_clump_nested.CV.GCST008972.Gout
Development Method
Name pt_clump_nested.CV
Parameters p0.0001, p0.01 r2 = 0.1, window = 250kb
Variants
Original Genome Build GRCh38
Number of Variants 7,279
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000517
Citation (link to publication) Monti R et al. Am J Hum Genet (2024)
Ancestry Distribution
Score Development/Training
European: 100%
6,704 individuals (100%)
PGS Evaluation
European: 66.7%
South Asian: 33.3%
6 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
— 6,704 individuals European UKB — — — — —

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) 		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
PPM019829 PSS011217|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Gout OR: 1.41975 [1.39210045, 1.44793898]
β: 0.35048 [0.33081372, 0.37014115]		 AUROC: 0.59885 [0.59337584, 0.60432404] R²: 0.02171 [0.0193516, 0.02424187] 0 beta = log(or)/sd_pgs
PPM019830 PSS011229|
European Ancestry|
257,781 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Gout OR: 1.49959 [1.46760777, 1.53226568]
β: 0.40519 [0.38363371, 0.42674748]		 AUROC: 0.61194 [0.60594018, 0.61793514] R²: 0.0287 [0.02585984, 0.03197448] 0 beta = log(or)/sd_pgs
PPM019832 PSS011240|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Gout OR: 1.59226 [1.41454557, 1.79230371]
β: 0.46516 [0.34680833, 0.58350178]		 AUROC: 0.62345 [0.58805763, 0.65884647] R²: 0.0317 [0.01646922, 0.05246802] 0 beta = log(or)/sd_pgs
PPM019833 PSS011256|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Gout OR: 1.54512 [1.46301062, 1.63183622]
β: 0.4351 [0.38049638, 0.4897059]		 AUROC: 0.62088 [0.60552207, 0.63624195] R²: 0.03364 [0.02524368, 0.04289464] 0 beta = log(or)/sd_pgs
PPM019835 PSS011284|
South Asian Ancestry|
9,326 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Gout OR: 1.47895 [1.2857321, 1.70119925]
β: 0.39133 [0.25132828, 0.53133344]		 AUROC: 0.60425 [0.56546463, 0.64303584] R²: 0.02242 [0.00910118, 0.04163739] 0 beta = log(or)/sd_pgs
PPM019837 PSS011270|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Gout OR: 1.69355 [1.61299567, 1.77811774]
β: 0.52682 [0.47809311, 0.57555535]		 AUROC: 0.64832 [0.63528135, 0.66136231] R²: 0.04876 [0.04004656, 0.05763014] 0 beta = log(or)/sd_pgs

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
PSS011240 — —
[
  • 282 cases
  • , 43,775 controls
]
 — South Asian — G&H —
PSS011217 — —
[
  • 10,646 cases
  • , 188,628 controls
]
 — European — EB —
PSS011284 — —
[
  • 206 cases
  • , 9,120 controls
]
 — South Asian — UKB —
PSS011256 — —
[
  • 1,318 cases
  • , 65,547 controls
]
 — European — HUNT —
PSS011229 M13_GOUT, ICD10: M10, ICD9: 2740 —
[
  • 8,759 cases
  • , 249,022 controls
]
 — European — FinnGen —
PSS011270 — —
[
  • 1,676 cases
  • , 88,598 controls
]
 — European — UKB —