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
  • RBC
  • erythrocyte number
  • red blood cell count
Mapped term(s) 3 mapped terms
  • MeSH:D004906
  • NCIt:C51946
  • SNOMEDCT:14089001

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000110
(rbc)
 PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre		 Red blood cell count erythrocyte count 707
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000110/ScoringFiles/PGS000110.txt.gz
PGS000187
(rbc)
 PGP000078 |
Vuckovic D et al. Cell (2020)
 Red blood cell count erythrocyte count 678
-
 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000187/ScoringFiles/PGS000187.txt.gz

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) 		Evaluated Score 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
PPM000541 PGS000187
(rbc)
 PSS000291|
European Ancestry|
39,260 individuals
 PGP000078 |
Vuckovic D et al. Cell (2020)
 Reported Trait: Red blood cell count — — R²: 0.11765 sex, age, 10 genetic PCs —
PPM000558 PGS000187
(rbc)
 PSS000290|
European Ancestry|
2,314 individuals
 PGP000078 |
Vuckovic D et al. Cell (2020)
 Reported Trait: Red blood cell count — — R²: 0.06798 sex, age, 10 genetic PCs —
PPM000253 PGS000110
(rbc)
 PSS000149|
European Ancestry|
40,262 individuals
 PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre		 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) —
PPM000252 PGS000110
(rbc)
 PSS000175|
European Ancestry|
81,614 individuals
 PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre		 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)
PPM001771 PGS000187
(rbc)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Red blood cell count — — Pearson correlation coefficent (r): 0.22 — —

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
PSS000290 — — 2,314 individuals — European
(French Canadian)		 — CARTaGENE —
PSS000291 — — 39,260 individuals — European — INTERVAL —
PSS000175 — — 81,614 individuals,
45.0 % Male samples
 Mean = 57.26 years
Range = [39.99, 70.99] years		 European — UKB —
PSS000911 — — 13,989 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)		 — QBB —
PSS000149 — — 40,262 individuals,
49.0 % Male samples
 Mean = 43.84 years
Range = [18.0, 76.4] years		 European — INTERVAL —