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 tre... e 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: C3199]Show more
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 17 mapped terms
  • DOID:3083
  • ICD10:J44
  • ICD9:490-496.99
  • ICD9:496
  • MEDGEN:9818
  • MESH:D029424
  • MONDO:0005002
  • MedDRA:10009033
  • NCIT:C3199
  • NCIt:C3199
  • OMIM:606963
  • SCTID:13645005
  • SNOMEDCT:13645005
  • SNOMEDCT:413846005
  • SNOMEDCT:84162001
  • UMLS:C0024117
  • icd11.foundation:133207228
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.
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Polygenic Score ID & Name
PGS Publication ID (PGP)
Reported Trait
Mapped Trait(s) (Ontology)
Number of Variants
Ancestry distribution
GWAS
Dev
Eval
Scoring File (FTP Link)
PGS001326
(GBE_HC431)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Emphysemaemphysema42
-
D
E
 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 diseasechronic obstructive pulmonary disease482
-
D
E
 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 disease569
-
D
E
 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 disease498
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001334/ScoringFiles/PGS001334.txt.gz
PGS001783
(1kgeur_gbmi_COPD_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Chronic obstructive pulmonary diseasechronic obstructive pulmonary disease884,139
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001783/ScoringFiles/PGS001783.txt.gz
PGS001788
(1kgeur_gbmi_leaveUKBBout_COPD_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Chronic obstructive pulmonary diseasechronic obstructive pulmonary disease910,082
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001788/ScoringFiles/PGS001788.txt.gz
PGS001850
(portability-PLR_496)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Chronic airway obstructionchronic obstructive pulmonary disease7,347
-
D
E
 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 obstructionchronic obstructive pulmonary disease811,003
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002062/ScoringFiles/PGS002062.txt.gz
PGS004466
(disease.J44.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
J44 (Other chronic obstructive pulmonary disease)chronic obstructive pulmonary disease1,059,939
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004466/ScoringFiles/PGS004466.txt.gz
PGS004536
(meta.J44.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
J44 (Other chronic obstructive pulmonary disease)chronic obstructive pulmonary disease1,059,939
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004536/ScoringFiles/PGS004536.txt.gz
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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.

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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
PPM009117PGS001326
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009118PGS001326
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009119PGS001326
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009120PGS001326
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009121PGS001326
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009146PGS001332
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009147PGS001332
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009148PGS001332
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009149PGS001332
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009150PGS001332
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009151PGS001333
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009152PGS001333
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009153PGS001333
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009154PGS001333
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009155PGS001333
(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]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
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Evaluated Samples

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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
PSS004079——
[
  • 63 cases
  • , 6,434 controls
]
—African unspecified—UKB—
PSS004080——
[
  • 7 cases
  • , 1,697 controls
]
—East Asian—UKB—
PSS004081——
[
  • 754 cases
  • , 24,151 controls
]
—Europeannon-white British ancestryUKB—
PSS004082——
[
  • 148 cases
  • , 7,683 controls
]
—South Asian—UKB—
PSS004083——
[
  • 2,080 cases
  • , 65,345 controls
]
—Europeanwhite British ancestryUKBTesting cohort (heldout set)
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
]
—Europeannon-white British ancestryUKB—
PSS004300——
[
  • 186 cases
  • , 7,645 controls
]
—South Asian—UKB—
PSS004301——
[
  • 2,525 cases
  • , 64,900 controls
]
—Europeanwhite British ancestryUKBTesting 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
]
—Europeannon-white British ancestryUKB—
PSS004499——
[
  • 11 cases
  • , 7,820 controls
]
—South Asian—UKB—
PSS004500——
[
  • 429 cases
  • , 66,996 controls
]
—Europeanwhite British ancestryUKBTesting cohort (heldout set)
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