Polygenic Score (PGS) ID: PGS000210

Predicted Trait
Reported Trait Lung function (FEV1/FVC)
Mapped Trait(s) FEV/FEC ratio (EFO_0004713)
Released in PGS Catalog: July 1, 2020
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name LF279
Variants
Original Genome Build GRCh37
Number of Variants 279
Development Method
Name GWAS significant variants
Parameters Sentinel variants
PGS Source
PGS Catalog Publication (PGP) ID PGP000086
Citation (link to publication) Shrine N et al. Nat Genet (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
321,047 individuals (100%)
PGS Evaluation
African: 21.4%
East Asian: 21.4%
European: 21.4%
Additional Diverse Ancestries: 21.4%
South Asian: 14.3%
14 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST007431
Europe PMC: 30804560
321,047 individuals European

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
PPM000638 PSS000345|
East Asian Ancestry|
75,580 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Chronic obstructive pulmonary disease OR: 1.219 [1.182, 1.256] age, age^2, sex, height, smoking Models were stratified by geographical region and meta-analyzed. 12 Proxy SNPs were used
PPM000636 PSS000348|
European Ancestry|
303,570 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Chronic obstructive pulmonary disease OR: 1.436 [1.411, 1.461] age, age^2, sex, height, smoking, 10 genetic PCs *Potential inflation (some weights are derived in a UKB GWAS)
PPM000645 PSS000351|
East Asian Ancestry|
72,796 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Lung Function (FEV1/FVC) β: -0.078 [-0.085, -0.071] age, age^2, sex, height, smoking Models were stratified by geographical region and meta-analyzed. 12 Proxy SNPs were used
PPM000647 PSS000346|
European Ancestry|
10,894 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Chronic obstructive pulmonary disease OR: 1.546 [1.476, 1.62] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000642 PSS000355|
European Ancestry|
303,570 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Lung Function (FEV1/FVC) β: -0.224 [-0.227, -0.221] age, age^2, sex, height, smoking, 10 genetic PCs *Potential inflation (some weights are derived in a UKB GWAS)
PPM000643 PSS000353|
Additional Diverse Ancestries|
1,208 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Lung Function (FEV1/FVC) β: -0.176 [-0.231, -0.12] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000641 PSS000354|
East Asian Ancestry|
1,607 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Lung Function (FEV1/FVC) β: -0.142 [-0.191, -0.093] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000640 PSS000357|
South Asian Ancestry|
6,358 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Lung Function (FEV1/FVC) β: -0.181 [-0.205, -0.156] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000639 PSS000352|
African Ancestry|
4,225 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Lung Function (FEV1/FVC) β: -0.086 [-0.116, -0.056] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000644 PSS000356|
Additional Diverse Ancestries|
6,033 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Lung Function (FEV1/FVC) β: -0.186 [-0.211, -0.162] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000637 PSS000349|
Additional Diverse Ancestries|
6,033 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Chronic obstructive pulmonary disease OR: 1.506 [1.325, 1.712] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000635 PSS000350|
South Asian Ancestry|
6,358 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Chronic obstructive pulmonary disease OR: 1.414 [1.254, 1.594] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000634 PSS000347|
African Ancestry|
4,225 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Chronic obstructive pulmonary disease OR: 1.348 [1.152, 1.577] age, age^2, sex, height, smoking, 10 genetic PCs
PPM000646 PSS000344|
African Ancestry|
2,466 individuals
PGP000086 |
Shrine N et al. Nat Genet (2019)
Reported Trait: Chronic obstructive pulmonary disease OR: 1.255 [1.147, 1.374] age, age^2, sex, height, smoking, 10 genetic PCs

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
PSS000352 4,225 individuals African unspecified UKB
PSS000353 1,208 individuals Other admixed ancestry
(Admixed African (unspecified) and European)
UKB
PSS000354 1,607 individuals East Asian UKB
PSS000355 303,570 individuals European UKB
PSS000356 6,033 individuals Other admixed ancestry UKB
PSS000357 6,358 individuals South Asian UKB
PSS000344
[
  • 910 cases
  • , 1,556 controls
]
African American or Afro-Caribbean COPDGene
PSS000345 FEV1/FVC<0.7 and FEV1<80% predicted (i.e. corresponding to GOLD 2-4 standards)
[
  • 69,567 cases
  • , 6,013 controls
]
East Asian
(Chinese)
CKB
PSS000346
[
  • 6,979 cases
  • , 3,915 controls
]
European 6 cohorts
  • COPDGene
  • ,ECLIPSE
  • ,GenKOLS
  • ,NAS
  • ,NETT
  • ,SPIROMICS
PSS000347 FEV1/FVC<0.7 and FEV1<80% predicted (i.e. corresponding to GOLD 2-4 standards)
[
  • 172 cases
  • , 4,053 controls
]
African unspecified UKB
PSS000348 FEV1/FVC<0.7 and FEV1<80% predicted (i.e. corresponding to GOLD 2-4 standards)
[
  • 288,467 cases
  • , 15,103 controls
]
European UKB
PSS000349 FEV1/FVC<0.7 and FEV1<80% predicted (i.e. corresponding to GOLD 2-4 standards)
[
  • 5,752 cases
  • , 281 controls
]
Other admixed ancestry UKB
PSS000350 FEV1/FVC<0.7 and FEV1<80% predicted (i.e. corresponding to GOLD 2-4 standards)
[
  • 6,046 cases
  • , 312 controls
]
South Asian UKB
PSS000351 72,796 individuals East Asian
(Chinese)
CKB