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

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
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
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

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
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