Polygenic Score (PGS) ID: PGS000110

Predicted Trait
Reported Trait Red blood cell count
Mapped Trait(s) erythrocyte count (EFO_0004305)
Additional Trait Information RBC#
Released in PGS Catalog: Feb. 19, 2020
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Score Details

Score Construction
PGS Name rbc
Development Method
Name Regularized Regression (Elastic Net)
Parameters Bi-allelic variants (MAF > 0.01, INFO > 0.4, missingness rate < 0.1) with LD thinning (r2 threshold = 0.5)
Variants
Original Genome Build GRCh37
Number of Variants 23,242
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000051
Citation (link to publication) Xu Y et al. Cell Genom (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
408,069 individuals (100%)
Score Development/Training
European: 100%
326,455 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
— 408,069 individuals,
46.0 % Male samples
 European UKB
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
— 326,455 individuals,
46.0 % Male samples
 European UKB — Mean = 57.22 years
Range = [38.87, 72.91] years		 — — —

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
PPM000252 PSS000175|
European Ancestry|
81,614 individuals
 PGP000051 |
Xu Y et al. Cell Genom (2022)
 Reported Trait: Red blood cell count — — Pearson correlation coefficent (r): 0.45067 age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical covariates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment) UKB Testing Set - these samples were held out from Score Development (regression training) but overlap with the samples used for variant selection (GWAS)
PPM000253 PSS000149|
European Ancestry|
40,262 individuals
 PGP000051 |
Xu Y et al. Cell Genom (2022)
 Reported Trait: Red blood cell count — — Pearson correlation coefficent (r): 0.42574 age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical covariates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment) —

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
PSS000149 — — 40,262 individuals,
49.0 % Male samples
 Mean = 43.84 years
Range = [18.0, 76.4] years		 European — INTERVAL —
PSS000175 — — 81,614 individuals,
45.0 % Male samples
 Mean = 57.26 years
Range = [39.99, 70.99] years		 European — UKB —