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 16 mapped terms
  • DOID:3083
  • ICD10:J44
  • ICD10:J44.9
  • 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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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

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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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

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
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)
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)
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)