PGS Publication: PGP000310

Publication Information (EuropePMC)
Title A polygenic risk score for multiple myeloma risk prediction.
PubMed ID 34845334(Europe PMC)
doi 10.1038/s41431-021-00986-8
Publication Date Nov. 30, 2021
Journal Eur J Hum Genet
Author(s) Canzian F, Piredda C, Macauda A, Zawirska D, Andersen NF, Nagler A, Zaucha JM, Mazur G, Dumontet C, Wątek M, Jamroziak K, Sainz J, Várkonyi J, Butrym A, Beider K, Abildgaard N, Lesueur F, Dudziński M, Vangsted AJ, Pelosini M, Subocz E, Petrini M, Buda G, Raźny M, Gemignani F, Marques H, Orciuolo E, Kadar K, Jurczyszyn A, Druzd-Sitek A, Vogel U, Andersen V, Reis RM, Suska A, Avet-Loiseau H, Kruszewski M, Tomczak W, Rymko M, Minvielle S, Campa D.
Released in PGS Catalog: April 13, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS002281
(PRS23_MM)
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Multiple myeloma multiple myeloma 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002281/ScoringFiles/PGS002281.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
PPM012970 PGS002281
(PRS23_MM)
 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 PGS002281
(PRS23_MM)
 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