Trait: chronic obstructive pulmonary disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000341
Description A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. [NCIT: P378]
Trait category
Other disease
Synonyms 58 synonyms
  • Airflow Obstruction, Chronic
  • Airflow Obstructions, Chronic
  • CAFL - Chronic airflow limitation
  • CAL - Chronic airflow limitation
  • CAO - Chronic airflow obstruction
  • CHRONIC OBSTRUCTIVE AIRWAY DIS
  • CHRONIC OBSTRUCTIVE LUNG DIS
  • CHRONIC OBSTRUCTIVE PULM DIS
  • CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD)
  • COAD
  • COAD - Chronic obstructive airways disease
  • COLD
  • COLD (chronic obstructive lung disease)
  • COLD - Chronic obstructive lung disease
  • COPD
  • COPD - Chronic obstructive pulmonary disease
  • COPD NOS
  • COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE
  • COPD, chronic obstructive pulmonary disease
  • Chronic Airflow Obstruction
  • Chronic Airflow Obstructions
  • Chronic Obstructive Airways Disease
  • Chronic Obstructive Lung Disease
  • Chronic Obstructive Pulmonary Disease (COPD)
  • Chronic airflow limitation
  • Chronic airway disease
  • Chronic airway obstruction
  • Chronic irreversible airway obstruction
  • Chronic obstructive lung disease, NEC
  • Chronic obstructive lung disease, NOS
  • Chronic obstructive pulmonary disease NOS
  • Chronic obstructive pulmonary disease finding
  • Chronic obstructive pulmonary disease finding (finding)
  • DISEASE (COPD), CHRONIC OBSTRUCTIVE
  • Dops
  • OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC
  • PULM DIS CHRONIC OBSTRUCTIVE
  • PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE
  • Pulmonary Disease, Chronic Obstructive
  • chronic airway obstruction, NEC in ICD9CM_2006
  • chronic airway obstruction, not elsewhere classified
  • chronic obstructive airway disease
  • chronic obstructive airways disease
  • chronic obstructive airways disease NOS
  • chronic obstructive airways disease NOS (disorder)
  • chronic obstructive lung disease
  • chronic obstructive lung disease (disorder)
  • chronic obstructive lung disease [Ambiguous]
  • chronic obstructive pulmonary disease
  • chronic obstructive pulmonary disease (COPD)
  • chronic obstructive pulmonary disease and allied conditions
  • chronic obstructive pulmonary disease, (COPD)
  • cold
  • cold (chronic obstructive lung disease)
  • disease (COPD), chronic obstructive
  • obstructive lung disease, chronic
  • obstructive pulmonary disease (COPD), chronic
  • pulmonary disease (COPD), chronic obstructive
Mapped terms 15 mapped terms
  • DOID:3083
  • ICD10:J44
  • ICD9:490-496.99
  • ICD9:496
  • MESH:D029424
  • MONDO:0005002
  • MeSH:D029424
  • MedDRA:10009033
  • NCIT:C3199
  • NCIt:C3199
  • OMIM:606963
  • SCTID:13645005
  • SNOMEDCT:13645005
  • SNOMEDCT:413846005
  • SNOMEDCT:84162001
Child trait(s) emphysema

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
Note: This table shows all PGS for "chronic obstructive pulmonary disease" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS001326
(GBE_HC431)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Emphysema emphysema 42
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001326/ScoringFiles/PGS001326.txt.gz
PGS001332
(GBE_HC442)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Chronic obstructive pulmonary disease chronic obstructive pulmonary disease 482
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001332/ScoringFiles/PGS001332.txt.gz
PGS001333
(GBE_HC1582)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Chronic obstructive pulmonary disease (algorithmically-defined) chronic obstructive pulmonary disease 569
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001333/ScoringFiles/PGS001333.txt.gz
PGS001334
(GBE_HC1035)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Other chronic obstructive pulmonary disease (time-to-event) chronic obstructive pulmonary disease 498
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001334/ScoringFiles/PGS001334.txt.gz
PGS001850
(portability-PLR_496)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Chronic airway obstruction chronic obstructive pulmonary disease 7,347
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001850/ScoringFiles/PGS001850.txt.gz
PGS002062
(portability-ldpred2_496)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Chronic airway obstruction chronic obstructive pulmonary disease 811,003
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002062/ScoringFiles/PGS002062.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
PPM009117 PGS001326
(GBE_HC431)
PSS004496|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Emphysema AUROC: 0.79508 [0.66687, 0.92329] : 0.11615
Incremental AUROC (full-covars): -0.00299
PGS R2 (no covariates): 6e-05
PGS AUROC (no covariates): 0.54363 [0.35853, 0.72873]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009118 PGS001326
(GBE_HC431)
PSS004497|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Emphysema AUROC: 0.98854 [0.98287, 0.99422] : 0.35967
Incremental AUROC (full-covars): 0.00059
PGS R2 (no covariates): 0.01376
PGS AUROC (no covariates): 0.67098 [0.43987, 0.90208]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009119 PGS001326
(GBE_HC431)
PSS004498|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Emphysema AUROC: 0.7867 [0.75313, 0.82026] : 0.09488
Incremental AUROC (full-covars): -0.00065
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.49994 [0.45601, 0.54388]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009120 PGS001326
(GBE_HC431)
PSS004499|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Emphysema AUROC: 0.78275 [0.67463, 0.89087] : 0.0813
Incremental AUROC (full-covars): 0.00398
PGS R2 (no covariates): 0.00648
PGS AUROC (no covariates): 0.59809 [0.42688, 0.7693]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009121 PGS001326
(GBE_HC431)
PSS004500|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Emphysema AUROC: 0.72797 [0.70437, 0.75156] : 0.05838
Incremental AUROC (full-covars): 0.00547
PGS R2 (no covariates): 0.00531
PGS AUROC (no covariates): 0.56911 [0.54137, 0.59684]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009146 PGS001332
(GBE_HC442)
PSS004506|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Chronic obstructive airways disease/copd AUROC: 0.75825 [0.69744, 0.81905] : 0.08985
Incremental AUROC (full-covars): 0.00297
PGS R2 (no covariates): 0.00366
PGS AUROC (no covariates): 0.56943 [0.4939, 0.64496]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009147 PGS001332
(GBE_HC442)
PSS004507|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Chronic obstructive airways disease/copd AUROC: 0.93404 [0.85456, 1.0] : 0.35918
Incremental AUROC (full-covars): 0.00775
PGS R2 (no covariates): 0.05713
PGS AUROC (no covariates): 0.78102 [0.65685, 0.90519]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009148 PGS001332
(GBE_HC442)
PSS004508|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Chronic obstructive airways disease/copd AUROC: 0.75808 [0.74076, 0.77539] : 0.10489
Incremental AUROC (full-covars): 0.0013
PGS R2 (no covariates): 0.00194
PGS AUROC (no covariates): 0.53674 [0.51446, 0.55902]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009149 PGS001332
(GBE_HC442)
PSS004509|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Chronic obstructive airways disease/copd AUROC: 0.74266 [0.70089, 0.78443] : 0.08552
Incremental AUROC (full-covars): -0.00028
PGS R2 (no covariates): 0.00048
PGS AUROC (no covariates): 0.51815 [0.46516, 0.57113]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009150 PGS001332
(GBE_HC442)
PSS004510|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Chronic obstructive airways disease/copd AUROC: 0.73063 [0.71971, 0.74156] : 0.08401
Incremental AUROC (full-covars): 0.003
PGS R2 (no covariates): 0.00235
PGS AUROC (no covariates): 0.53971 [0.52633, 0.5531]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009151 PGS001333
(GBE_HC1582)
PSS004297|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: AD chronic obstructive pulmonary disease AUROC: 0.68968 [0.6281, 0.75125] : 0.05389
Incremental AUROC (full-covars): -0.00542
PGS R2 (no covariates): 5e-05
PGS AUROC (no covariates): 0.49374 [0.43492, 0.55257]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009152 PGS001333
(GBE_HC1582)
PSS004298|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: AD chronic obstructive pulmonary disease AUROC: 0.77182 [0.67988, 0.86376] : 0.12635
Incremental AUROC (full-covars): -0.00429
PGS R2 (no covariates): 0.00238
PGS AUROC (no covariates): 0.55811 [0.43123, 0.68498]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009153 PGS001333
(GBE_HC1582)
PSS004299|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: AD chronic obstructive pulmonary disease AUROC: 0.71622 [0.70023, 0.7322] : 0.08141
Incremental AUROC (full-covars): 0.00289
PGS R2 (no covariates): 0.00236
PGS AUROC (no covariates): 0.53939 [0.52155, 0.55723]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009154 PGS001333
(GBE_HC1582)
PSS004300|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: AD chronic obstructive pulmonary disease AUROC: 0.71121 [0.67474, 0.74767] : 0.06785
Incremental AUROC (full-covars): 0.00468
PGS R2 (no covariates): 0.00251
PGS AUROC (no covariates): 0.53996 [0.49615, 0.58377]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009155 PGS001333
(GBE_HC1582)
PSS004301|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: AD chronic obstructive pulmonary disease AUROC: 0.70059 [0.69045, 0.71072] : 0.06924
Incremental AUROC (full-covars): 0.0031
PGS R2 (no covariates): 0.00218
PGS AUROC (no covariates): 0.5364 [0.52484, 0.54796]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009156 PGS001334
(GBE_HC1035)
PSS004079|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other chronic obstructive pulmonary disease AUROC: 0.75968 [0.69978, 0.81959] : 0.09174
Incremental AUROC (full-covars): -0.0023
PGS R2 (no covariates): 0.00029
PGS AUROC (no covariates): 0.4865 [0.41003, 0.56298]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009157 PGS001334
(GBE_HC1035)
PSS004080|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other chronic obstructive pulmonary disease AUROC: 0.92777 [0.86245, 0.9931] : 0.33262
Incremental AUROC (full-covars): 0.00135
PGS R2 (no covariates): 0.00048
PGS AUROC (no covariates): 0.52185 [0.32406, 0.71963]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009158 PGS001334
(GBE_HC1035)
PSS004081|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other chronic obstructive pulmonary disease AUROC: 0.75602 [0.73955, 0.77249] : 0.10564
Incremental AUROC (full-covars): 0.00136
PGS R2 (no covariates): 0.00195
PGS AUROC (no covariates): 0.53598 [0.51506, 0.55689]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009159 PGS001334
(GBE_HC1035)
PSS004082|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other chronic obstructive pulmonary disease AUROC: 0.74851 [0.70987, 0.78716] : 0.09156
Incremental AUROC (full-covars): 0.00157
PGS R2 (no covariates): 0.00202
PGS AUROC (no covariates): 0.53954 [0.49035, 0.58873]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009160 PGS001334
(GBE_HC1035)
PSS004083|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other chronic obstructive pulmonary disease AUROC: 0.72542 [0.71492, 0.73591] : 0.0827
Incremental AUROC (full-covars): 0.00368
PGS R2 (no covariates): 0.00314
PGS AUROC (no covariates): 0.54658 [0.5339, 0.55926]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009690 PGS001850
(portability-PLR_496)
PSS009325|
European Ancestry|
18,735 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0241 [0.0098, 0.0384] sex, age, birth date, deprivation index, 16 PCs
PPM009691 PGS001850
(portability-PLR_496)
PSS009099|
European Ancestry|
3,959 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0029 [-0.0284, 0.0341] sex, age, birth date, deprivation index, 16 PCs
PPM009692 PGS001850
(portability-PLR_496)
PSS008653|
European Ancestry|
6,311 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0292 [0.0045, 0.0539] sex, age, birth date, deprivation index, 16 PCs
PPM009694 PGS001850
(portability-PLR_496)
PSS008207|
South Asian Ancestry|
5,753 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): -0.0056 [-0.0315, 0.0203] sex, age, birth date, deprivation index, 16 PCs
PPM009697 PGS001850
(portability-PLR_496)
PSS008876|
African Ancestry|
3,652 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): -0.0066 [-0.0391, 0.0259] sex, age, birth date, deprivation index, 16 PCs
PPM009693 PGS001850
(portability-PLR_496)
PSS008427|
Greater Middle Eastern Ancestry|
1,122 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0083 [-0.0508, 0.0673] sex, age, birth date, deprivation index, 16 PCs
PPM009695 PGS001850
(portability-PLR_496)
PSS007989|
East Asian Ancestry|
1,729 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): -0.017 [-0.0644, 0.0304] sex, age, birth date, deprivation index, 16 PCs
PPM009696 PGS001850
(portability-PLR_496)
PSS007772|
African Ancestry|
2,270 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0156 [-0.0258, 0.0569] sex, age, birth date, deprivation index, 16 PCs
PPM011359 PGS002062
(portability-ldpred2_496)
PSS009099|
European Ancestry|
3,959 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0118 [-0.0194, 0.043] sex, age, birth date, deprivation index, 16 PCs
PPM011360 PGS002062
(portability-ldpred2_496)
PSS008653|
European Ancestry|
6,311 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0499 [0.0252, 0.0745] sex, age, birth date, deprivation index, 16 PCs
PPM011361 PGS002062
(portability-ldpred2_496)
PSS008427|
Greater Middle Eastern Ancestry|
1,122 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0345 [-0.0246, 0.0933] sex, age, birth date, deprivation index, 16 PCs
PPM011362 PGS002062
(portability-ldpred2_496)
PSS008207|
South Asian Ancestry|
5,753 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0272 [0.0013, 0.053] sex, age, birth date, deprivation index, 16 PCs
PPM011363 PGS002062
(portability-ldpred2_496)
PSS007989|
East Asian Ancestry|
1,729 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): -0.0227 [-0.07, 0.0248] sex, age, birth date, deprivation index, 16 PCs
PPM011364 PGS002062
(portability-ldpred2_496)
PSS007772|
African Ancestry|
2,270 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.0422 sex, age, birth date, deprivation index, 16 PCs
PPM011365 PGS002062
(portability-ldpred2_496)
PSS008876|
African Ancestry|
3,652 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): -0.0266 [-0.0591, 0.0059] sex, age, birth date, deprivation index, 16 PCs
PPM011358 PGS002062
(portability-ldpred2_496)
PSS009325|
European Ancestry|
18,735 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Chronic airway obstruction Partial Correlation (partial-r): 0.047 [0.0327, 0.0613] 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
PSS008653 6,311 individuals European Italy (South Europe) UKB
PSS004297
[
  • 89 cases
  • , 6,408 controls
]
African unspecified UKB
PSS004298
[
  • 17 cases
  • , 1,687 controls
]
East Asian UKB
PSS004299
[
  • 1,002 cases
  • , 23,903 controls
]
European non-white British ancestry UKB
PSS004300
[
  • 186 cases
  • , 7,645 controls
]
South Asian UKB
PSS004301
[
  • 2,525 cases
  • , 64,900 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS007772 2,270 individuals African American or Afro-Caribbean Carribean UKB
PSS008427 1,122 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009325 18,735 individuals European UK (+ Ireland) UKB
PSS004079
[
  • 63 cases
  • , 6,434 controls
]
African unspecified UKB
PSS004080
[
  • 7 cases
  • , 1,697 controls
]
East Asian UKB
PSS004081
[
  • 754 cases
  • , 24,151 controls
]
European non-white British ancestry UKB
PSS004082
[
  • 148 cases
  • , 7,683 controls
]
South Asian UKB
PSS004083
[
  • 2,080 cases
  • , 65,345 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS009099 3,959 individuals European Poland (NE Europe) UKB
PSS008207 5,753 individuals South Asian India (South Asia) UKB
PSS004496
[
  • 16 cases
  • , 6,481 controls
]
African unspecified UKB
PSS004497
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004498
[
  • 149 cases
  • , 24,756 controls
]
European non-white British ancestry UKB
PSS004499
[
  • 11 cases
  • , 7,820 controls
]
South Asian UKB
PSS004500
[
  • 429 cases
  • , 66,996 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004506
[
  • 58 cases
  • , 6,439 controls
]
African unspecified UKB
PSS004507
[
  • 6 cases
  • , 1,698 controls
]
East Asian UKB
PSS004508
[
  • 671 cases
  • , 24,234 controls
]
European non-white British ancestry UKB
PSS004509
[
  • 130 cases
  • , 7,701 controls
]
South Asian UKB
PSS004510
[
  • 1,860 cases
  • , 65,565 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS008876 3,652 individuals African unspecified Nigeria (West Africa) UKB
PSS007989 1,729 individuals East Asian China (East Asia) UKB