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 terms 18 mapped terms
  • DOID:13189
  • ICD10:M10
  • ICD10CM:M10
  • ICD9:274
  • ICD9:274.0
  • ICD9:274.00
  • ICD9:274.9
  • MESH:D006073
  • MONDO:0005393
  • MeSH:D006073
  • MedDRA:10018627
  • MedDRA:10018633
  • 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 Scoring File (FTP Link)
PGS000199
(G-PROB_Gout)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Gout gout 250
-
https://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
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000711/ScoringFiles/PGS000711.txt.gz - Check Terms/Licenses
PGS001248
(GBE_HC328)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Gout gout 880
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001248/ScoringFiles/PGS001248.txt.gz
PGS001249
(GBE_HC1215)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Gout (time-to-event) gout 1,796
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001249/ScoringFiles/PGS001249.txt.gz
PGS001822
(portability-PLR_274.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Gout gout 216
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001822/ScoringFiles/PGS001822.txt.gz
PGS002030
(portability-ldpred2_274.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Gout gout 163,210
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002030/ScoringFiles/PGS002030.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
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)
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)
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)
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)
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)
PPM008749 PGS001248
(GBE_HC328)
PSS004452|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Gout AUROC: 0.8285 [0.79138, 0.86562] : 0.15624
Incremental AUROC (full-covars): 0.01741
PGS R2 (no covariates): 0.02051
PGS AUROC (no covariates): 0.62118 [0.56505, 0.67731]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008750 PGS001248
(GBE_HC328)
PSS004453|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Gout AUROC: 0.84973 [0.79458, 0.90489] : 0.22864
Incremental AUROC (full-covars): 0.02603
PGS R2 (no covariates): 0.04315
PGS AUROC (no covariates): 0.65938 [0.56975, 0.74901]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008751 PGS001248
(GBE_HC328)
PSS004454|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Gout AUROC: 0.83619 [0.82126, 0.85113] : 0.17414
Incremental AUROC (full-covars): 0.02904
PGS R2 (no covariates): 0.03561
PGS AUROC (no covariates): 0.66092 [0.63744, 0.6844]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008752 PGS001248
(GBE_HC328)
PSS004455|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Gout AUROC: 0.77913 [0.74649, 0.81177] : 0.11671
Incremental AUROC (full-covars): 0.03258
PGS R2 (no covariates): 0.0283
PGS AUROC (no covariates): 0.63533 [0.59256, 0.6781]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008753 PGS001248
(GBE_HC328)
PSS004456|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Gout AUROC: 0.81572 [0.80628, 0.82516] Incremental AUROC (full-covars): 0.04061
PGS R2 (no covariates): 0.04014
: 0.15436
PGS AUROC (no covariates): 0.66908 [0.65556, 0.6826]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008754 PGS001249
(GBE_HC1215)
PSS004203|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gout AUROC: 0.77537 [0.73576, 0.81498] : 0.12063
Incremental AUROC (full-covars): 0.01433
PGS R2 (no covariates): 0.01201
PGS AUROC (no covariates): 0.58952 [0.54447, 0.63458]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008755 PGS001249
(GBE_HC1215)
PSS004204|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gout AUROC: 0.8503 [0.79897, 0.90164] : 0.23863
Incremental AUROC (full-covars): 0.01971
PGS R2 (no covariates): 0.02733
PGS AUROC (no covariates): 0.62617 [0.54055, 0.7118]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008756 PGS001249
(GBE_HC1215)
PSS004205|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gout AUROC: 0.81772 [0.80388, 0.83156] : 0.17135
Incremental AUROC (full-covars): 0.02929
PGS R2 (no covariates): 0.03724
PGS AUROC (no covariates): 0.65807 [0.63913, 0.67702]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008757 PGS001249
(GBE_HC1215)
PSS004206|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gout AUROC: 0.76492 [0.73884, 0.79099] PGS AUROC (no covariates): 0.61344 [0.57941, 0.64746]
: 0.11928
Incremental AUROC (full-covars): 0.02377
PGS R2 (no covariates): 0.02209
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008758 PGS001249
(GBE_HC1215)
PSS004207|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gout AUROC: 0.79258 [0.7842, 0.80095] : 0.14867
Incremental AUROC (full-covars): 0.03784
PGS R2 (no covariates): 0.03919
PGS AUROC (no covariates): 0.65389 [0.64293, 0.66484]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009476 PGS001822
(portability-PLR_274.1)
PSS009292|
European Ancestry|
19,983 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0364 [0.0226, 0.0503] sex, age, birth date, deprivation index, 16 PCs
PPM009477 PGS001822
(portability-PLR_274.1)
PSS009066|
European Ancestry|
4,135 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.043 [0.0125, 0.0735] sex, age, birth date, deprivation index, 16 PCs
PPM009478 PGS001822
(portability-PLR_274.1)
PSS008620|
European Ancestry|
6,655 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0538 [0.0297, 0.0777] sex, age, birth date, deprivation index, 16 PCs
PPM009479 PGS001822
(portability-PLR_274.1)
PSS008396|
Greater Middle Eastern Ancestry|
1,200 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0122 [-0.0449, 0.0692] sex, age, birth date, deprivation index, 16 PCs
PPM009480 PGS001822
(portability-PLR_274.1)
PSS008174|
South Asian Ancestry|
6,325 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0166 [-0.008, 0.0413] sex, age, birth date, deprivation index, 16 PCs
PPM009481 PGS001822
(portability-PLR_274.1)
PSS007961|
East Asian Ancestry|
1,810 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0287 [-0.0176, 0.075] sex, age, birth date, deprivation index, 16 PCs
PPM009482 PGS001822
(portability-PLR_274.1)
PSS007742|
African Ancestry|
2,480 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0314 [-0.0082, 0.0708] sex, age, birth date, deprivation index, 16 PCs
PPM009483 PGS001822
(portability-PLR_274.1)
PSS008845|
African Ancestry|
3,918 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0294 [-0.002, 0.0607] sex, age, birth date, deprivation index, 16 PCs
PPM011114 PGS002030
(portability-ldpred2_274.1)
PSS009292|
European Ancestry|
19,983 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0415 [0.0277, 0.0554] sex, age, birth date, deprivation index, 16 PCs
PPM011115 PGS002030
(portability-ldpred2_274.1)
PSS009066|
European Ancestry|
4,135 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.047 [0.0165, 0.0775] sex, age, birth date, deprivation index, 16 PCs
PPM011116 PGS002030
(portability-ldpred2_274.1)
PSS008620|
European Ancestry|
6,655 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0476 [0.0236, 0.0716] sex, age, birth date, deprivation index, 16 PCs
PPM011117 PGS002030
(portability-ldpred2_274.1)
PSS008396|
Greater Middle Eastern Ancestry|
1,200 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): -0.0053 [-0.0623, 0.0518] sex, age, birth date, deprivation index, 16 PCs
PPM011118 PGS002030
(portability-ldpred2_274.1)
PSS008174|
South Asian Ancestry|
6,325 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0231 [-0.0015, 0.0478] sex, age, birth date, deprivation index, 16 PCs
PPM011119 PGS002030
(portability-ldpred2_274.1)
PSS007961|
East Asian Ancestry|
1,810 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0262 [-0.0201, 0.0725] sex, age, birth date, deprivation index, 16 PCs
PPM011120 PGS002030
(portability-ldpred2_274.1)
PSS007742|
African Ancestry|
2,480 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0336 [-0.006, 0.073] sex, age, birth date, deprivation index, 16 PCs
PPM011121 PGS002030
(portability-ldpred2_274.1)
PSS008845|
African Ancestry|
3,918 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Gout Partial Correlation (partial-r): 0.0254 [-0.006, 0.0568] sex, age, birth date, deprivation index, 16 PCs

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
PSS000815 87,413 individuals European UKB
PSS000816 ICD-10 M10
[
  • 1,936 cases
  • , 133,364 controls
]
European
(Finnish)
FinnGen
PSS009292 19,983 individuals European UK (+ Ireland) UKB
PSS008396 1,200 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009066 4,135 individuals European Poland (NE Europe) UKB
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
PSS004452
[
  • 93 cases
  • , 6,404 controls
]
African unspecified UKB
PSS004453
[
  • 38 cases
  • , 1,666 controls
]
East Asian UKB
PSS004454
[
  • 486 cases
  • , 24,419 controls
]
European non-white British ancestry UKB
PSS004455
[
  • 175 cases
  • , 7,656 controls
]
South Asian UKB
PSS004456
[
  • 1,484 cases
  • , 65,941 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS008174 6,325 individuals South Asian India (South Asia) UKB
PSS004203
[
  • 145 cases
  • , 6,352 controls
]
African unspecified UKB
PSS004204
[
  • 46 cases
  • , 1,658 controls
]
East Asian 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
PSS004205
[
  • 749 cases
  • , 24,156 controls
]
European non-white British ancestry UKB
PSS004206
[
  • 286 cases
  • , 7,545 controls
]
South Asian UKB
PSS004207
[
  • 2,391 cases
  • , 65,034 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS008845 3,918 individuals African unspecified Nigeria (West Africa) UKB
PSS007961 1,810 individuals East Asian China (East Asia) UKB
PSS008620 6,655 individuals European Italy (South Europe) UKB
PSS007742 2,480 individuals African American or Afro-Caribbean Carribean UKB