Polygenic Score (PGS) ID: PGS002371

Predicted Trait
Reported Trait Mean Corpuscular Hemoglobin
Mapped Trait(s) mean corpuscular hemoglobin (EFO_0004527)
Released in PGS Catalog: June 9, 2022
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Score Details

Score Construction
PGS Name blood_MEAN_CORPUSCULAR_HEMOGLOBIN.BOLT-LMM-BBJ
Development Method
Name BOLT-LMM-BBJ
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 920,923
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)
East Asian: 100%
124,000 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)
124,000 individuals East Asian BBJ

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
PPM013283 PSS009799|
African Ancestry|
5,952 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Mean Corpuscular Hemoglobin Incremental R2 (full model vs. covariates alone): 0.0005 age, sex, age‚age*sex, assessment center, genotyping array, 10 PCs
PPM013306 PSS009800|
East Asian Ancestry|
845 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Mean Corpuscular Hemoglobin Incremental R2 (full model vs. covariates alone): 0.1055 age, sex, age‚age*sex, assessment center, genotyping array, 10 PCs
PPM013329 PSS009801|
European Ancestry|
41,826 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Mean Corpuscular Hemoglobin Incremental R2 (full model vs. covariates alone): 0.0115 age, sex, age‚age*sex, assessment center, genotyping array, 10 PCs
PPM013352 PSS009802|
South Asian Ancestry|
7,485 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Mean Corpuscular Hemoglobin Incremental R2 (full model vs. covariates alone): 0.01 age, sex, age‚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
PSS009799 5,952 individuals African unspecified UKB
PSS009800 845 individuals East Asian UKB
PSS009801 41,826 individuals European Non-British European UKB
PSS009802 7,485 individuals South Asian UKB