Polygenic Score (PGS) ID: PGS002656

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.PolyFun-pred
Development Method
Name PolyFun-pred
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 351,633
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%
326,188 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)
— 326,188 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
PPM014372 PSS009799|
African Ancestry|
5,952 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Mean Corpuscular Hemoglobin — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0234 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_MEAN_CORPUSCULAR_HEMOGLOBIN.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014421 PSS009800|
East Asian Ancestry|
845 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Mean Corpuscular Hemoglobin — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.1192 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_MEAN_CORPUSCULAR_HEMOGLOBIN.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014470 PSS009801|
European Ancestry|
41,826 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Mean Corpuscular Hemoglobin — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.2162 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_MEAN_CORPUSCULAR_HEMOGLOBIN.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014519 PSS009802|
South Asian Ancestry|
7,485 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Mean Corpuscular Hemoglobin — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.1375 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_MEAN_CORPUSCULAR_HEMOGLOBIN.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights

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 —