Trait: erythrocyte count

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004305
Description
  • The number of red blood cells per unit volume in a sample of venous blood.
Trait category
Hematological measurement
Synonyms 3 synonyms
  • red blood cell count
  • RBC
  • erythrocyte number
Mapped term(s) 3 mapped terms
  • NCIt:C51946
  • MSH:D004906
  • SNOMEDCT:14089001

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000110 rbc PGP000051
Xu Y et al. bioRxiv (2020)
Red blood cell count 707 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000110/ScoringFiles/PGS000110.txt.gz

PGS 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)
Evaluated Score 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
PPM000252 PGS000110 (rbc) PSS000175 PGP000051
Xu Y et al. (2020)
Reported Trait: Red blood cell count Pearson correlation coefficent (r): 0.4029 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 PGS000110 (rbc) PSS000149 PGP000051
Xu Y et al. (2020)
Reported Trait: Red blood cell count Pearson correlation coefficent (r): 0.3631 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)
Detailed Phenotype Description 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