PGS Catalog - PGS002345 / Red blood cell count (Polygenic Score)

Polygenic Score (PGS) ID: PGS002345

Predicted Trait
Reported Trait	Red blood cell count
Mapped Trait(s)	erythrocyte count (EFO_0004305)

Released in PGS Catalog: June 9, 2022

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Score Details

Score Construction
PGS Name	blood_RED_COUNT.BOLT-LMM
Development Method
Name	BOLT-LMM
Parameters	NR
Variants
Original Genome Build	GRCh37
Number of Variants	1,109,311
Effect Weight Type	beta

PGS Source
PGS Catalog Publication (PGP) ID	PGP000332
Citation (link to publication)	Weissbrod O et al. Nat Genet (2022)

Ancestry Distribution
Source of Variant Associations (GWAS)	European: 100% 327,209 individuals (100%)
PGS Evaluation	African: 25% East Asian: 25% European: 25% South Asian: 25% 4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)

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Study Identifiers	Sample Numbers	Sample Ancestry	Cohort(s)
—	327,209 individuals	European	UKB

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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.

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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
PPM013110	PSS009823\| African Ancestry\| 6,120 individuals	PGP000332 \| Weissbrod O et al. Nat Genet (2022)	Reported Trait: Red Blood Cell Count	—	—	Incremental R2 (full model vs. covariates alone): 0.0248	age, sex, age*sex, assessment center, genotyping array, 10 PCs	—
PPM013159	PSS009824\| East Asian Ancestry\| 885 individuals	PGP000332 \| Weissbrod O et al. Nat Genet (2022)	Reported Trait: Red Blood Cell Count	—	—	Incremental R2 (full model vs. covariates alone): 0.0807	age, sex, age*sex, assessment center, genotyping array, 10 PCs	—
PPM013208	PSS009825\| European Ancestry\| 42,065 individuals	PGP000332 \| Weissbrod O et al. Nat Genet (2022)	Reported Trait: Red Blood Cell Count	—	—	Incremental R2 (full model vs. covariates alone): 0.1566	age, sex, age*sex, assessment center, genotyping array, 10 PCs	—
PPM013257	PSS009826\| South Asian Ancestry\| 7,707 individuals	PGP000332 \| Weissbrod O et al. Nat Genet (2022)	Reported Trait: Red Blood Cell Count	—	—	Incremental R2 (full model vs. covariates alone): 0.0917	age, sex, age*sex, assessment center, genotyping array, 10 PCs	—

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Evaluated Samples

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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
PSS009823	—	—	6,120 individuals	—	African unspecified	—	UKB	—
PSS009824	—	—	885 individuals	—	East Asian	—	UKB	—
PSS009825	—	—	42,065 individuals	—	European	Non-British European	UKB	—
PSS009826	—	—	7,707 individuals	—	South Asian	—	UKB	—

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