Polygenic Score (PGS) ID: PGS000393

Predicted Trait
Reported Trait Lung and bronchus cancer
Mapped Trait(s)
Additional Trait Information PheCode 165.1
Released in PGS Catalog: Dec. 15, 2020
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Terms and Licenses
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608
Development Method
Name PRS-CS
Parameters Parameters = auto; LD reference (eur)
Variants
Original Genome Build GRCh37
Number of Variants 1,110,438
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
1,083,582 individuals (100%)
Score Development/Training
European: 100%
4,900 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 1,681 cases
  • , 359,513 controls
]
European NR
[
  • 2,007 cases
  • , 359,187 controls
]
European NR
[
  • 2,007 cases
  • , 359,187 controls
]
European NR
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
Europe PMC: 32991828
[
  • 446 cases
  • , 4,454 controls
]
European MGI PheCode:165.1; ICD9CM:162.0, 162.2, 162.3, 162.4, 162.5, 162.8, 162.9, 209.21, 231.2, V10.11; ICD10CM:C33, C34, C34.0, C34.00, C34.01, C34.02, C34.1, C34.10, C34.11, C34.12, C34.2, C34.3, C34.30, C34.31, C34.32, C34.8, C34.80, C34.81, C34.82, C34.9, C34.90, C34.91, C34.92, C7A.090, D02.2, D02.20, D02.21, D02.22

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
PPM001078 PSS000541|
European Ancestry|
4,698 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bronchus; lung OR: 1.149 [1.04, 1.269]
β: 0.139 (0.0509)
AUROC: 0.539 [0.508, 0.568] Nagelkerke's Pseudo-R²: 0.00329
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.18 [1.06, 4.46]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE165.1_LUNG-CANCER_PRS-CS_MGI_20200608

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
PSS000541 PheCode:165.1; ICD9CM:162.0, 162.2, 162.3, 162.4, 162.5, 162.8, 162.9, 209.21, 231.2, V10.11; ICD10CM:C33, C34, C34.0, C34.00, C34.01, C34.02, C34.1, C34.10, C34.11, C34.12, C34.2, C34.3, C34.30, C34.31, C34.32, C34.8, C34.80, C34.81, C34.82, C34.9, C34.90, C34.91, C34.92, C7A.090, D02.2, D02.20, D02.21, D02.22
[
  • 428 cases
  • , 4,270 controls
]
European MGI