PGS Publication: PGP000264

Publication Information (EuropePMC)
Title Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.
PubMed ID 32649918(Europe PMC)
doi 10.1016/s2213-2600(20)30101-6
Publication Date July 1, 2020
Journal Lancet Respir Med
Author(s) Moll M, Sakornsakolpat P, Shrine N, Hobbs BD, DeMeo DL, John C, Guyatt AL, McGeachie MJ, Gharib SA, Obeidat M, Lahousse L, Wijnant SRA, Brusselle G, Meyers DA, Bleecker ER, Li X, Tal-Singer R, Manichaikul A, Rich SS, Won S, Kim WJ, Do AR, Washko GR, Barr RG, Psaty BM, Bartz TM, Hansel NN, Barnes K, Hokanson JE, Crapo JD, Lynch D, Bakke P, Gulsvik A, Hall IP, Wain L, International COPD Genetics Consortium, SpiroMeta Consortium, Weiss ST, Silverman EK, Dudbridge F, Tobin MD, Cho MH.
Released in PGS Catalog: Dec. 10, 2021

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

PGS Developed 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
PPM009319 PGS001800
(PRS_FEV1)
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_Ratio 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
PPM009320 PGS001801
(PRS_Ratio)
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 PGS001801
(PRS_Ratio)
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 PGS001801
(PRS_Ratio)
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
PPM009316 PGS001800
(PRS_FEV1)
PSS007721|
European Ancestry|
5,175 individuals
PGP000264 |
Moll M et al. Lancet Respir Med (2020)
Reported Trait: GOLD spirometry grades Association (p-value): 4.54e-43
PPM009318 PGS001800
(PRS_FEV1)
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_Ratio 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

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
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
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
PSS007722
[
  • 131 cases
  • , 1,737 controls
]
,
43.36 % Male samples
European RS Fixed-effects meta-analysis