PGS Catalog - PGS003453 / Chronic lymphocytic leukemia (Polygenic Score)

Polygenic Score (PGS) ID: PGS003453

Predicted Trait
Reported Trait	Chronic lymphocytic leukemia
Mapped Trait(s)	chronic lymphocytic leukemia (EFO_0000095)

Released in PGS Catalog: March 24, 2023

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Score Details

Score Construction
PGS Name	PRS43_CLL
Development Method
Name	Genome-wide significant SNPs
Parameters	NR
Variants
Original Genome Build	hg19
Number of Variants	43
Effect Weight Type	log(OR)

PGS Source
PGS Catalog Publication (PGP) ID	PGP000448
Citation (link to publication)	Berndt SI et al. Leukemia (2022)

Ancestry Distribution
Source of Variant Associations (GWAS)	European: 100% 42,908 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: GCST003468 Europe PMC: 26956414	10,767 individuals	European	NR
GWAS Catalog: GCST001570 Europe PMC: 22700719	4,866 individuals	European	NR
GWAS Catalog: GCST000224 Europe PMC: 18758461	1,943 individuals	European	NR
GWAS Catalog: GCST004146 Europe PMC: 28165464	17,691 individuals	European	NR
GWAS Catalog: GCST002299 Europe PMC: 24292274	6,938 individuals	European	NR
GWAS Catalog: GCST000906 Europe PMC: 21131588	703 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
PPM017224	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Chronic lymphocytic leukemia	OR: 2.17 [2.07, 2.28]	—	—	—	—
PPM017232	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Diffuse large B-cell lymphoma	OR: 1.17 [1.12, 1.22]	—	—	—	—
PPM017240	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Follicular lymphoma	OR: 1.12 [1.07, 1.17]	—	—	—	—
PPM017248	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Marginal zone lymphoma	OR: 1.15 [1.07, 1.24]	—	—	—	—

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
PSS010176	—	—	20,134 individuals [ 10,629 cases , 9,505 controls ]	—	European	—	NR	Inter- Lymph Consortium