Polygenic Score (PGS) ID: PGS000099

Predicted Trait
Reported Trait Mean corpuscular hemoglobin
Mapped Trait(s) mean corpuscular hemoglobin (EFO_0004527)
Additional Trait Information MCH
Released in PGS: Feb. 19, 2020

Score Details

Score Construction
PGS Name mch
Variants
Original Genome Build GRCh37
Number of Variants 682
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
406,517 individuals,
46.0 % Male samples
European
Score Development/Training
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
325,214 individuals,
46.0 % Male samples
Mean = 57.24 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
PPM000231 PSS000138 PGP000051
Xu Y et al. (2020)
Pre
Reported Trait: Mean corpuscular hemoglobin Pearson correlation coefficent (r): 0.4583 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)
PPM000230 PSS000164 PGP000051
Xu Y et al. (2020)
Pre
Reported Trait: Mean corpuscular hemoglobin Pearson correlation coefficent (r): 0.5252 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)

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000164 81,303 individuals,
46.0 % Male samples
Mean = 57.27 years
Range = [39.99, 70.44] years
European UKB
PSS000138 40,108 individuals,
50.0 % Male samples
Mean = 43.85 years
Range = [18.0, 76.4] years
European INTERVAL