PGS Publication: PGP000385

Publication Information (EuropePMC)
Title A polygenic risk score and age of diagnosis of COPD.
PubMed ID 35115341(Europe PMC)
doi 10.1183/13993003.01954-2021
Publication Date Sept. 15, 2022
Journal Eur Respir J
Author(s) Zhang J, Xu H, Qiao D, DeMeo DL, Silverman EK, O'Connor GT, Hobbs BD, Dupuis J, Cho MH, Moll M.
Released in PGS Catalog: Nov. 7, 2022

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:
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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

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS001800
(PRS_FEV1)
PGP000264 |
Moll M et al. Lancet Respir Med (2020)
Forced expiratory volume (FEV1) forced expiratory volume 1,713,430
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001800/ScoringFiles/PGS001800.txt.gz
PGS001801
(PRS_Ratio)
PGP000264 |
Moll M et al. Lancet Respir Med (2020)
FEV1/FVC ratio FEV/FEC ratio 1,232,916
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001801/ScoringFiles/PGS001801.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
PPM015563 PGS001800
(PRS_FEV1)
PSS009985|
European Ancestry|
6,647 individuals
PGP000385 |
Zhang J et al. Eur Respir J (2022)
|Ext.
Reported Trait: Incident chronic obstructive pulmonary disease before age 50 years OR: 1.55 [1.41, 1.71] AUROC: 0.739 [0.718, 0.761] PGS001801, early-life risk factors, principal components of genetic ancestry NOTE: A combined PRS is used to account for both PRS. The combined score can be derived using code from: http://www.copdconsortium.org/polygenic-risk-scor
PPM015564 PGS001800
(PRS_FEV1)
PSS009983|
African Ancestry|
2,464 individuals
PGP000385 |
Zhang J et al. Eur Respir J (2022)
|Ext.
Reported Trait: Incident chronic obstructive pulmonary disease before age 50 years OR: 1.23 [1.05, 1.43] AUROC: 0.635 [0.595, 0.675] PGS001801, early-life risk factors, principal components of genetic ancestry NOTE: A combined PRS is used to account for both PRS. The combined score can be derived using code from: http://www.copdconsortium.org/polygenic-risk-scor
PPM015565 PGS001800
(PRS_FEV1)
PSS009984|
European Ancestry|
6,812 individuals
PGP000385 |
Zhang J et al. Eur Respir J (2022)
|Ext.
Reported Trait: Incident chronic obstructive pulmonary disease before age 50 years OR: 2.47 [2.12, 2.88] PGS001801, early-life risk factors, principal components of genetic ancestry NOTE: A combined PRS is used to account for both PRS. The combined score can be derived using code from: http://www.copdconsortium.org/polygenic-risk-scor
PPM015566 PGS001801
(PRS_Ratio)
PSS009985|
European Ancestry|
6,647 individuals
PGP000385 |
Zhang J et al. Eur Respir J (2022)
|Ext.
Reported Trait: Incident chronic obstructive pulmonary disease before age 50 years OR: 1.55 [1.41, 1.71] AUROC: 0.739 [0.718, 0.761] PGS001800, early-life risk factors, principal components of genetic ancestry NOTE: A combined PRS is used to account for both PRS. The combined score can be derived using code from: http://www.copdconsortium.org/polygenic-risk-scor
PPM015567 PGS001801
(PRS_Ratio)
PSS009983|
African Ancestry|
2,464 individuals
PGP000385 |
Zhang J et al. Eur Respir J (2022)
|Ext.
Reported Trait: Incident chronic obstructive pulmonary disease before age 50 years OR: 1.23 [1.05, 1.43] AUROC: 0.635 [0.595, 0.675] PGS001800, early-life risk factors, principal components of genetic ancestry NOTE: A combined PRS is used to account for both PRS. The combined score can be derived using code from: http://www.copdconsortium.org/polygenic-risk-scor
PPM015568 PGS001801
(PRS_Ratio)
PSS009984|
European Ancestry|
6,812 individuals
PGP000385 |
Zhang J et al. Eur Respir J (2022)
|Ext.
Reported Trait: Incident chronic obstructive pulmonary disease before age 50 years OR: 2.47 [2.12, 2.88] PGS001800, early-life risk factors, principal components of genetic ancestry NOTE: A combined PRS is used to account for both PRS. The combined score can be derived using code from: http://www.copdconsortium.org/polygenic-risk-scor

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
PSS009984 Age of diagnosis was defined using age at earliest exam when moderate-to-severe COPD (modified Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade 2–4 using pre-bronchodilator spirometry) was observed. We defined COPD occurring early in life as age at diagnosis <50 year 6,812 individuals European FHS
PSS009985 Age of diagnosis was defined using age at earliest exam when moderate-to-severe COPD (modified Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade 2–4 using pre-bronchodilator spirometry) was observed. We defined COPD occurring early in life as age at diagnosis <50 year 6,647 individuals,
52.3 % Male samples
European
(Non-Hispanic White)
COPDGene
PSS009983 Age of diagnosis was defined using age at earliest exam when moderate-to-severe COPD (modified Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade 2–4 using pre-bronchodilator spirometry) was observed. We defined COPD occurring early in life as age at diagnosis <50 year 2,464 individuals,
57.6 % Male samples
African American or Afro-Caribbean
(African American)
COPDGene