Trait: tracheal disorder

Trait Information
Identifier MONDO_0002567
Description A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. [NCIT: P378]
Trait category
Other disease
Synonyms 6 synonyms
  • disease of trachea
  • disease or disorder of trachea
  • disorder of trachea
  • trachea disease
  • trachea disease or disorder
  • tracheal disorder
Child trait(s) 3 child traits

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 PGS for child terms of "tracheal disorder" in the EFO hierarchy.
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)
PGS000388
(PRSWEB_PHECODE165.1_C3-BRONCHUS-LUNG_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,109,069
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000388/ScoringFiles/PGS000388.txt.gz
PGS000389
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000389/ScoringFiles/PGS000389.txt.gz
PGS000390
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000390/ScoringFiles/PGS000390.txt.gz
PGS000391
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 14
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000391/ScoringFiles/PGS000391.txt.gz
PGS000392
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 19
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000392/ScoringFiles/PGS000392.txt.gz
PGS000393
(PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,110,438
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000393/ScoringFiles/PGS000393.txt.gz
PGS000394
(PRSWEB_PHECODE165.1_LUNG-CANCER-MESOT_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,110,438
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000394/ScoringFiles/PGS000394.txt.gz
PGS000395
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000395/ScoringFiles/PGS000395.txt.gz
PGS000396
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 75
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000396/ScoringFiles/PGS000396.txt.gz
PGS000397
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lung and bronchus cancer tracheal cancer,
bronchus cancer,
lung cancer		 46,920
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000397/ScoringFiles/PGS000397.txt.gz
PGS001326
(GBE_HC431)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Emphysema pulmonary 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
PGS001783
(1kgeur_gbmi_COPD_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Chronic obstructive pulmonary disease chronic obstructive pulmonary disease 884,139
-
 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 disease chronic obstructive pulmonary disease 910,082
-
 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 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
PGS004466
(disease.J44.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 J44 (Other chronic obstructive pulmonary disease) chronic obstructive pulmonary disease 1,059,939
-
 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 disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004536/ScoringFiles/PGS004536.txt.gz
PGS012564
(GRS22_COPD)
 PGP000808 |
Li J et al. BMC Med (2024)
 Chronic obstructive pulmonary disease chronic obstructive pulmonary disease 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012564/ScoringFiles/PGS012564.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
PPM001073 PGS000388
(PRSWEB_PHECODE165.1_C3-BRONCHUS-LUNG_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.132 [1.024, 1.25]
β: 0.124 (0.0508)		 AUROC: 0.533 [0.505, 0.562] Nagelkerke's Pseudo-R²: 0.00265
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.96 [0.926, 4.14]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_C3-BRONCHUS-LUNG_PRS-CS_MGI_20200608
PPM001074 PGS000389
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.11 [1.006, 1.225]
β: 0.105 (0.0501)		 AUROC: 0.52 [0.492, 0.547] Nagelkerke's Pseudo-R²: 0.00202
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 2.19 [1.07, 4.49]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_MGI_20200608
PPM001075 PGS000390
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_UKB_20200608)
 PSS000566|
European Ancestry|
12,201 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.194 [1.124, 1.269]
β: 0.178 (0.0309)		 AUROC: 0.543 [0.526, 0.562] Nagelkerke's Pseudo-R²: 0.00583
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 0.852 [0.437, 1.66]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_P_5e-08_UKB_20200608
PPM001076 PGS000391
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.12 [1.015, 1.237]
β: 0.114 (0.0507)		 AUROC: 0.529 [0.503, 0.558] Nagelkerke's Pseudo-R²: 0.00234
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.75 [0.796, 3.85]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608
PPM020287 PGS000391
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_MGI_20200608)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.731 [0.703, 0.759] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM001077 PGS000392
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608)
 PSS000566|
European Ancestry|
12,201 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.221 [1.149, 1.298]
β: 0.2 (0.0313)		 AUROC: 0.552 [0.534, 0.569] Nagelkerke's Pseudo-R²: 0.00728
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.94 [1.22, 3.1]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608
PPM020288 PGS000392
(PRSWEB_PHECODE165.1_GWAS-Catalog-r2019-05-03-X165.1_PT_UKB_20200608)
 PSS011324|
European Ancestry|
1,202 individuals
 PGP000539 |
Lebrett MB et al. Genet Med (2023)
|Ext.		 Reported Trait: Lung cancer — AUROC: 0.733 [0.705, 0.761] — Age, sex, current smoking status, BMI, forced expiratory volume in 1 second/forced vital capacity ratio —
PPM001078 PGS000393
(PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.149 [1.04, 1.269]
β: 0.139 (0.0509)		 AUROC: 0.539 [0.508, 0.568] Nagelkerke's Pseudo-R²: 0.00329
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.18 [1.06, 4.46]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608
PPM001079 PGS000394
(PRSWEB_PHECODE165.1_LUNG-CANCER-MESOT_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.149 [1.04, 1.269]
β: 0.139 (0.0509)		 AUROC: 0.539 [0.508, 0.568] Nagelkerke's Pseudo-R²: 0.00329
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.18 [1.06, 4.46]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_LUNG-CANCER-MESOT_PRS-CS_MGI_20200608
PPM001080 PGS000395
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PRS-CS_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.133 [1.025, 1.252]
β: 0.125 (0.051)		 AUROC: 0.533 [0.505, 0.562] Nagelkerke's Pseudo-R²: 0.00277
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.27 [0.514, 3.12]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PRS-CS_MGI_20200608
PPM001081 PGS000396
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PT_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.121 [1.015, 1.238]
β: 0.114 (0.0507)		 AUROC: 0.525 [0.496, 0.554] Nagelkerke's Pseudo-R²: 0.00233
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 2.21 [1.08, 4.51]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_PT_MGI_20200608
PPM001082 PGS000397
(PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_LASSOSUM_MGI_20200608)
 PSS000541|
European Ancestry|
4,698 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of bronchus; lung OR: 1.114 [1.009, 1.23]
β: 0.108 (0.0507)		 AUROC: 0.528 [0.503, 0.556] Nagelkerke's Pseudo-R²: 0.00202
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.03 [0.387, 2.77]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_UKBB-SAIGE-HRC-X165.1_LASSOSUM_MGI_20200608
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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] 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 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] R²: 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] R²: 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] R²: 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] R²: 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] R²: 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
PPM009312 PGS001783
(1kgeur_gbmi_COPD_pst_eff_a1_b0.5_phiauto)
 PSS007694|
European Ancestry|
7,128 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Chronic obstructive pulmonary disease — AUROC: 0.74 Nagelkerke's R2 (covariates regressed out): 0.03809 sex,age, 20PCs —
PPM009292 PGS001788
(1kgeur_gbmi_leaveUKBBout_COPD_pst_eff_a1_b0.5_phiauto)
 PSS007711|
European Ancestry|
337,168 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Chronic obstructive pulmonary disease — AUROC: 0.715 Nagelkerke's R2 (covariates regressed out): 0.0163 sex,age,age2,age*sex,age^2*sex, 20PCs —
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 —
PPM020581 PGS004466
(disease.J44.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: J44 (Other chronic obstructive pulmonary disease) OR: 1.30839 — — — —
PPM020651 PGS004536
(meta.J44.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: J44 (Other chronic obstructive pulmonary disease) OR: 1.48758 — — — —
PPM030710 PGS012564
(GRS22_COPD)
 PSS012261|
European Ancestry|
277,059 individuals
 PGP000808 |
Li J et al. BMC Med (2024)
 Reported Trait: Incident COPD HR: 1.09 [1.06, 1.12] — — age, sex, and the first 10 principal components of ancestry —
PPM030711 PGS012564
(GRS22_COPD)
 PSS012261|
European Ancestry|
277,059 individuals
 PGP000808 |
Li J et al. BMC Med (2024)
 Reported Trait: Incident COPD x current work schedule interaction — — Hazard ratio (HR, usual/permanent night shift and high PRS vs. day workers and low PRS): 1.9 [1.63, 2.22] age, sex, BMI, Townsend deprivation index, sleep duration, smoking status, alcohol drinking, IPAQ activity group, chronotype, asthma —

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 —
PSS000566 PheCode:165.1; ICD9:162, 162.0, 162.2, 162.3, 162.4, 162.5, 162.8, 162.9, 231.2; ICD10:C33, C34.0, C34.1, C34.2, C34.3, C34.8, C34.9, D02.2 —
[
  • 1,109 cases
  • , 11,092 controls
]
 — European — 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)
PSS007694 — —
[
  • 132 cases
  • , 6,995 controls
]
 — European — CanPath —
PSS009099 — — 3,959 individuals — European Poland (NE Europe) UKB —
PSS007711 — —
[
  • 12,063 cases
  • , 325,104 controls
]
 — European — 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)
PSS011364 — — 56,192 individuals — European — UKB —
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)
PSS012261 — — 277,059 individuals,
48.03 % Male samples
 Mean = 52.71 years
Sd = 7.08 years		 European — UKB —
PSS008876 — — 3,652 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007989 — — 1,729 individuals — East Asian China (East Asia) UKB —
PSS000541 PheCode:165.1; ICD9CM:162.0, 162.2, 162.3, 162.4, 162.5, 162.8, 162.9, 209.21, 231.2, V10.11; ICD10CM:C33, C34, C34.0, C34.00, C34.01, C34.02, C34.1, C34.10, C34.11, C34.12, C34.2, C34.3, C34.30, C34.31, C34.32, C34.8, C34.80, C34.81, C34.82, C34.9, C34.90, C34.91, C34.92, C7A.090, D02.2, D02.20, D02.21, D02.22 —
[
  • 428 cases
  • , 4,270 controls
]
 — European — MGI —
PSS011324 — —
[
  • 652 cases
  • , 550 controls
]
,
47.0 % Male samples
 Median = 65.0 years European — MCRC —