Polygenic Score (PGS) ID: PGS000155

Predicted Trait
Reported Trait Glioma
Mapped Trait(s) glioma (EFO_0005543)
Released in PGS Catalog: April 29, 2020
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Score Details

Score Construction
PGS Name cGRS_Glioma
Development Method
Name Pruning and Thresholding (P+T)
Parameters GWAS significant and r2 < 0.2. PGS levels were computed as product(dosage*weight/expected risk effect), where the expected risk effect for each variant was calculated based on the risk allele frequence (f) and risk allele weight (OR) as f^2*OR^2 + 2f(1-f)OR + (1-f)^2.
Variants
Original Genome Build NR
Number of Variants 19
Effect Weight Type Odds Ratio over expected risk
PGS Source
PGS Catalog Publication (PGP) ID PGP000075
Citation (link to publication) Shi Z et al. Cancer Med (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
103,614 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004347
Europe PMC: 28346443
30,659 individuals European NR
GWAS Catalog: GCST004348
Europe PMC: 28346443
24,009 individuals European NR
GWAS Catalog: GCST004349
Europe PMC: 28346443
24,381 individuals European NR
GWAS Catalog: GCST000439
Europe PMC: 19578367
5,548 individuals European NR
GWAS Catalog: GCST003227
Europe PMC: 2642405
9,799 individuals European NR
GWAS Catalog: GCST003220
Europe PMC: 2642405
9,218 individuals European NR

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
PPM000475 PSS000275|
European Ancestry|
14,419 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Glioma Mean realative risk: 1.22 [1.18, 1.26]
Wilcoxon test (case vs. control) p-value: 1.39e-37
PPM000486 PSS000275|
European Ancestry|
14,419 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Glioma Odds Ratio (OR; high vs. average risk groups): 1.8 [1.55, 2.1]

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
PSS000275 Primary tumor samples from TCGA
[
  • 992 cases
  • , 0 controls
]
Mean = 52.0 years
Sd = 16.0 years
European TCGA
PSS000275
[
  • 0 cases
  • , 13,427 controls
]
European eMERGE