Polygenic Score (PGS) ID: PGS001801

Predicted Trait
Reported Trait FEV1/FVC ratio
Mapped Trait(s) FEV/FEC ratio (EFO_0004713)
Released in PGS Catalog: Dec. 10, 2021
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Score Details

Score Construction
PGS Name PRS_Ratio
Development Method
Name lassosum
Parameters Genotyped or well-imputed variants (r2 > 0.5). Can be combined with PGS001800(PRS_FEV1) to predict COPD (see performance metrics for details).
Variants
Original Genome Build GRCh37
Number of Variants 1,232,916
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000264
Citation (link to publication) Moll M et al. Lancet Respir Med (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
321,047 individuals (100%)
Score Development/Training
European: 100%
1,528 individuals (100%)
PGS Evaluation
European: 66.7%
African: 16.7%
Multi-ancestry (excluding European): 16.7%
  • African
  • Not Reported
  • East Asian
  • Hispanic or Latin American
6 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007431
Europe PMC: 30804560
321,047 individuals European UKB
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
[
  • 692 cases
  • , 836 controls
]
European GenKOLS Moderate-to-severe COPD (FEV1/FVC <0·7 and FEV1 <80% of predicted)

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)
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
PPM009320 PSS007722|
European Ancestry|
19,229 individuals
PGP000264 |
Moll M et al. Lancet Respir Med (2020)
Reported Trait: Chronic obstructive pulmonary disease (moderate-to-severe) Odds Ratio of Combined PRS (OR): 1.81 [1.74, 1.88) Age, sex, height, smoking pack-years, PCs of genetic ancestry, study clinic, PRS_FEV1 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-score
PPM009321 PSS007723|
Multi-ancestry (excluding European)|
7,122 individuals
PGP000264 |
Moll M et al. Lancet Respir Med (2020)
Reported Trait: Chronic obstructive pulmonary disease (moderate-to-severe) Odds Ratio of Combined PRS (OR): 1.42 [1.34, 1.51) Age, sex, height, smoking pack-years, PCs of genetic ancestry, study clinic, PRS_FEV1 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-score
PPM009317 PSS007721|
European Ancestry|
5,175 individuals
PGP000264 |
Moll M et al. Lancet Respir Med (2020)
Reported Trait: GOLD spirometry grades Association (p-value): 2.02e-69
PPM015566 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 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 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
PSS007721 5,175 individuals,
52.27 % Male samples
European COPDGene
PSS007722
[
  • 3,065 cases
  • , 2,110 controls
]
,
52.27 % Male samples
European COPDGene Fixed-effects meta-analysis
PSS007722
[
  • 609 cases
  • , 1,480 controls
]
,
36.19 % Male samples
European CHS Fixed-effects meta-analysis
PSS007722
[
  • 1,713 cases
  • , 147 controls
]
,
66.34 % Male samples
European ECLIPSE Fixed-effects meta-analysis
PSS007722
[
  • 1,809 cases
  • , 946 controls
]
,
63.74 % Male samples
European LHS Fixed-effects meta-analysis
PSS007722
[
  • 208 cases
  • , 948 controls
]
,
47.66 % Male samples
European MESA Fixed-effects meta-analysis
PSS007722
[
  • 371 cases
  • , 429 controls
]
,
83.12 % Male samples
European NAS, NETT Fixed-effects meta-analysis
PSS007722
[
  • 127 cases
  • , 911 controls
]
,
42.87 % Male samples
European RS Fixed-effects meta-analysis
PSS007722
[
  • 96 cases
  • , 867 controls
]
,
46.73 % Male samples
European RS Fixed-effects meta-analysis
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
PSS007722
[
  • 988 cases
  • , 537 controls
]
,
52.85 % Male samples
European SPIROMICS Fixed-effects meta-analysis
PSS007723
[
  • 910 cases
  • , 1,556 controls
]
,
57.62 % Male samples
African American or Afro-Caribbean COPDGene Fixed-effects meta-analysis
PSS007723
[
  • 116 cases
  • , 258 controls
]
,
34.49 % Male samples
African American or Afro-Caribbean CHS Fixed-effects meta-analysis
PSS007723
[
  • 794 cases
  • , 1,600 controls
]
,
74.56 % Male samples
Not reported NR Fixed-effects meta-analysis
PSS007723
[
  • 115 cases
  • , 645 controls
]
,
46.58 % Male samples
African American or Afro-Caribbean MESA Fixed-effects meta-analysis
PSS007723
[
  • 31 cases
  • , 422 controls
]
,
49.89 % Male samples
East Asian MESA Fixed-effects meta-analysis
PSS007723
[
  • 62 cases
  • , 613 controls
]
,
47.26 % Male samples
Hispanic or Latin American MESA Fixed-effects meta-analysis
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
PSS007722
[
  • 131 cases
  • , 1,737 controls
]
,
43.36 % Male samples
European RS Fixed-effects meta-analysis
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