Polygenic Score (PGS) ID: PGS000210

Predicted Trait
Reported Trait Lung function (FEV1/FVC)
Mapped Trait(s) FEV/FVC 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
Development Method
Name Genome-wide significant variants
Parameters Sentinel variants
Variants
Original Genome Build GRCh37
Number of Variants 279
Effect Weight Type NR
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
European: 29.4%
African: 23.5%
East Asian: 17.6%
Additional Diverse Ancestries: 17.6%
South Asian: 11.8%
17 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

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 —
PPM014853 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years ≥0) OR: 1.66 [1.55, 1.79]
β: 0.5096 (0.0372)		 — — — —
PPM014845 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years ≥0) OR: 1.57 [1.48, 1.67]
β: 0.4524 (0.0304)		 — — — —
PPM014846 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years ≥0) OR: 1.24 [1.14, 1.36]
β: 0.2191 (0.0436)		 — — — —
PPM014847 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years: [0,20)) OR: 1.69 [1.36, 2.11]
β: 0.5271 (0.1112)		 — — — —
PPM014848 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years: [0,20)) OR: 1.33 [1.05, 1.7]
β: 0.2872 (0.1233)		 — — — —
PPM014849 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years: [20,40)) OR: 1.64 [1.49, 1.82]
β: 0.4971 (0.0506)		 — — — —
PPM014854 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years ≥0) OR: 1.35 [1.2, 1.52]
β: 0.2994 (0.0609)		 — — — —
PPM014855 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years: [0,20)) OR: 1.85 [1.37, 2.5]
β: 0.6155 (0.1527)		 — — — —
PPM014856 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years: [0,20)) OR: 1.31 [0.87, 1.96]
β: 0.2667 (0.2061)		 — — — —
PPM014850 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years: [20,40)) OR: 1.35 [1.18, 1.53]
β: 0.2968 (0.0653)		 — — — —
PPM014851 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years ≥40) OR: 1.52 [1.4, 1.65]
β: 0.4211 (0.042)		 — — — —
PPM014859 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years ≥40) OR: 1.61 [1.46, 1.77]
β: 0.4762 (0.0488)		 — — — —
PPM014860 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years ≥40) OR: 1.18 [0.98, 1.41]
β: 0.1638 (0.0931)		 — — — —
PPM014861 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years ≥0) β: -2.8878 (0.1597) — R²: 0.0361 [0.0144, 0.0578] — —
PPM014862 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years ≥0) β: -1.2526 (0.1985) — R²: 0.0111 [-0.0214, 0.0436] — —
PPM014863 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years: [0,20)) β: -2.6173 (0.448) — R²: 0.0361 [-0.0337, 0.1059] — —
PPM014864 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years: [0,20)) β: -0.6558 (0.4221) — R²: 0.0036 [-0.0741, 0.0813] — —
PPM014865 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years: [20,40)) β: -3.2512 (0.2601) — R²: 0.0464 [0.0087, 0.0841] — —
PPM014866 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years: [20,40)) β: -1.5655 (0.2858) — R²: 0.0199 [-0.0285, 0.0683] — —
PPM014867 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years ≥40) β: -2.7449 (0.2221) — R²: 0.0315 [0.0028, 0.0602] — —
PPM014868 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1/FVC ratio (Smoking Pack-Years ≥40) β: -1.1647 (0.3587) — R²: 0.0083 [-0.045, 0.0616] — —
PPM014869 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years ≥0) β: -0.131 (0.0081) — R²: 0.0301 [0.0084, 0.0518] — —
PPM014870 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years ≥0) β: -0.036 (0.0105) — R²: 0.0028 [-0.0297, 0.0353] — —
PPM014872 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years: [0,20)) β: -0.0365 (0.024) — R²: 0.0036 [-0.0741, 0.0813] — —
PPM014873 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years: [20,40)) β: -0.1382 (0.0137) — R²: 0.0326 [-0.0051, 0.0703] — —
PPM014874 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years: [20,40)) β: -0.0518 (0.0153) — R²: 0.0063 [-0.0421, 0.0547] — —
PPM014875 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years ≥40) β: -0.1272 (0.0109) — R²: 0.0288 [0.0001, 0.0575] — —
PPM014876 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years ≥40) β: -0.0142 (0.0183) — R²: 0.0004 [-0.0529, 0.0537] — —
PPM014852 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Moderate to severe COPD (Smoking Pack-Years ≥40) OR: 1.1 [0.96, 1.26]
β: 0.0963 (0.0706)		 — — — —
PPM014857 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years: [20,40)) OR: 1.75 [1.54, 2.0]
β: 0.5621 (0.0664)		 — — — —
PPM014858 PSS009914|
African Ancestry|
3,627 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: Severe COPD (Smoking Pack-Years: [20,40)) OR: 1.5 [1.24, 1.8]
β: 0.4023 (0.0958)		 — — — —
PPM014871 PSS009915|
European Ancestry|
8,144 individuals
 PGP000348 |
Hu X et al. Am J Hum Genet (2022)
|Ext.		 Reported Trait: FEV1 (Smoking Pack-Years: [0,20)) β: -0.1204 (0.0248) — R²: 0.0256 [-0.0442, 0.0954] — —
PPM022298 PSS011909|
European Ancestry|
287,868 individuals
 PGP000699 |
Li S et al. Diabetes Obes Metab (2023)
|Ext.		 Reported Trait: Chronic obstructive pulmonary disease — — Hazard ratio (HR, high vs low PGS tertile): 1.17 [1.1, 1.24] Age, sex, body mass index, height, household income, education level, Townsend deprivation index, physical activity, family history of diseases (hypertension, cardiovascular disease, and diabetes), smoking status, drinking status, healthy diet score, passive smoking, air pollution, family history of COPD, baseline forced expiratory volume in 1s / forced vital capacity ratio, asthma, metabolic syndrome, 10 PCs, genotype batch —

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 —
PSS009915 — — 8,144 individuals — European
(Non Hispanic White)		 — COPDGene, SPIROMICS —
PSS009914 — — 3,627 individuals — African American or Afro-Caribbean
(African American)		 — COPDGene, SPIROMICS —
PSS011909 — Mean = 9.24 years
[
  • 5,877 cases
  • , 281,991 controls
]
,
44.26 % Male samples
 — European — 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 —