Polygenic Score (PGS) ID: PGS002281

Predicted Trait
Reported Trait Multiple myeloma
Mapped Trait(s) multiple myeloma (EFO_0001378)
Released in PGS Catalog: April 13, 2022
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Score Details

Score Construction
PGS Name PRS23_MM
Development Method
Name Genome-wide significant variants
Parameters <5E-08
Variants
Original Genome Build GRCh38
Number of Variants 23
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000310
Citation (link to publication) Canzian F et al. Eur J Hum Genet (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
733,337 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: GCST001331
Europe PMC: 22120009
 7,578 individuals European NR
GWAS Catalog: GCST002140
Europe PMC: 23955597
 9,641 individuals European NR
GWAS Catalog: GCST002921
Europe PMC: 26007630
 224,749 individuals European NR
GWAS Catalog: GCST004483
Europe PMC: 27363682
 241,704 individuals European NR
GWAS Catalog: GCST006432
Europe PMC: 30213928
 249,665 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
PPM012970 PSS009636|
European Ancestry|
2,395 individuals
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple myeloma — AUROC: 0.644 [0.622, 0.666] Odds Ratio (OR, highest vs lowest quintiles): 3.18 [2.34, 4.33] Age, sex, and geographic region of origin Unweighted score (100% call rate)
PPM012971 PSS009636|
European Ancestry|
2,395 individuals
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple myeloma — AUROC: 0.628 [0.605, 0.65] Odds Ratio (OR, highest vs lowest quintiles): 3.44 [2.53, 4.69] Age, sex, and geographic region of origin Weighted score (100% call rate)

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
PSS009636 — —
[
  • 1,426 cases
  • , 969 controls
]
 — European — NR International Multiple Myeloma rESEarch (IMMEnSE) consortium