Polygenic Score (PGS) ID: PGS000101

Predicted Trait
Reported Trait Mean corpuscular volume
Mapped Trait(s) mean corpuscular volume (EFO_0004526)
Additional Trait Information MCV
Released in PGS Catalog: Feb. 19, 2020
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Score Details

Score Construction
PGS Name mcv
Variants
Original Genome Build GRCh37
Number of Variants 739
Development Method
Name Regularized Regression (Elastic Net)
Parameters Variants included in the regression were selected according to their GWAS significance (p < 8.31e-9) and a subsequent conditional analysis (r2 threshold = 0.9); effect sizes of variants are estimated by regularized regression
PGS Source
PGS Catalog Publication (PGP) ID PGP000051
Citation (link to publication) Xu Y et al. bioRxiv (2020) Preprint

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
407,157 individuals,
46.0 % Male samples
European
Score Development/Training
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
325,726 individuals,
46.0 % Male samples
Mean = 57.23 years
Range = [38.87, 72.91] years
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 ID)
PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000234 PSS000166 PGP000051 Xu Y et al. (2020) Pre Reported Trait: Mean corpuscular volume Pearson correlation coefficent (r): 0.537 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)
PPM000235 PSS000140 PGP000051 Xu Y et al. (2020) Pre Reported Trait: Mean corpuscular volume Pearson correlation coefficent (r): 0.4384 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 ID)
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
PSS000140 40,080 individuals,
50.0 % Male samples
Mean = 43.82 years
Range = [18.0, 76.4] years
European INTERVAL
PSS000166 81,431 individuals,
46.0 % Male samples
Mean = 57.26 years
Range = [40.15, 71.1] years
European UKB