Polygenic Score (PGS) ID: PGS000109

Predicted Trait
Reported Trait Platelet count
Mapped Trait(s) platelet count (EFO_0004309)
Additional Trait Information PLT#
Released in PGS: Feb. 19, 2020

Score Details

Score Construction
PGS Name plt
Variants
Original Genome Build GRCh37
Number of Variants 762
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)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
391,232 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
312,986 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 PGS Model PGS Performance: Other Relevant Information
PPM000251 PSS000148 PGP000051
Xu Y et al. (2020)
Reported Trait: Platelet count Pearson correlation coefficent (r): 0.4797 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)
PPM000250 PSS000174 PGP000051
Xu Y et al. (2020)
Reported Trait: Platelet count Pearson correlation coefficent (r): 0.4843 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
PSS000148 38,939 individuals,
49.0 % Male samples
Mean = 43.75 years
Range = [18.0, 76.4] years
European INTERVAL
PSS000174 78,246 individuals,
46.0 % Male samples
Mean = 57.23 years
Range = [39.98, 70.43] years
European UKB