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 terms 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 Scoring File (FTP Link)
PGS000110
(rbc)
 PGP000051 |
Xu Y et al. Cell Genom (2022)
 Red blood cell count erythrocyte count 23,242
https://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
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000187/ScoringFiles/PGS000187.txt.gz
PGS001240
(GBE_INI30010)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Red blood cell count erythrocyte count 20,480
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001240/ScoringFiles/PGS001240.txt.gz
PGS001909
(portability-PLR_erythrocyte)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Red blood cell (erythrocyte) count erythrocyte count 81,887
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001909/ScoringFiles/PGS001909.txt.gz
PGS002123
(portability-ldpred2_erythrocyte)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Red blood cell (erythrocyte) count erythrocyte count 788,123
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002123/ScoringFiles/PGS002123.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
PPM000252 PGS000110
(rbc)
 PSS000175|
European Ancestry|
81,614 individuals
 PGP000051 |
Xu Y et al. Cell Genom (2022)
 Reported Trait: Red blood cell count — — Pearson correlation coefficent (r): 0.45067 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|
European Ancestry|
40,262 individuals
 PGP000051 |
Xu Y et al. Cell Genom (2022)
 Reported Trait: Red blood cell count — — Pearson correlation coefficent (r): 0.42574 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) —
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 —
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 —
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 — —
PPM008709 PGS001240
(GBE_INI30010)
 PSS006896|
African Ancestry|
6,139 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.26906 [0.25063, 0.28749]
Incremental R2 (full-covars): 0.01652
PGS R2 (no covariates): 0.01819 [0.01175, 0.02463]		 age, sex, UKB array type, Genotype PCs —
PPM008710 PGS001240
(GBE_INI30010)
 PSS006897|
East Asian Ancestry|
1,655 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.32546 [0.289, 0.36193]
Incremental R2 (full-covars): 0.04519
PGS R2 (no covariates): 0.05665 [0.03538, 0.07793]		 age, sex, UKB array type, Genotype PCs —
PPM008711 PGS001240
(GBE_INI30010)
 PSS006898|
European Ancestry|
24,175 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.37954 [0.37005, 0.38904]
Incremental R2 (full-covars): 0.10462
PGS R2 (no covariates): 0.11155 [0.10418, 0.11892]		 age, sex, UKB array type, Genotype PCs —
PPM008712 PGS001240
(GBE_INI30010)
 PSS006899|
South Asian Ancestry|
7,520 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.33598 [0.31894, 0.35302]
Incremental R2 (full-covars): 0.05745
PGS R2 (no covariates): 0.05295 [0.0433, 0.0626]		 age, sex, UKB array type, Genotype PCs —
PPM008713 PGS001240
(GBE_INI30010)
 PSS006900|
European Ancestry|
65,638 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.37344 [0.36766, 0.37922]
Incremental R2 (full-covars): 0.11681
PGS R2 (no covariates): 0.11784 [0.11327, 0.12241]		 age, sex, UKB array type, Genotype PCs —
PPM010155 PGS001909
(portability-PLR_erythrocyte)
 PSS009399|
European Ancestry|
19,422 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.3987 [0.3868, 0.4105] sex, age, birth date, deprivation index, 16 PCs —
PPM010156 PGS001909
(portability-PLR_erythrocyte)
 PSS009173|
European Ancestry|
4,001 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.404 [0.3776, 0.4296] sex, age, birth date, deprivation index, 16 PCs —
PPM010157 PGS001909
(portability-PLR_erythrocyte)
 PSS008727|
European Ancestry|
6,437 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.3387 [0.3169, 0.3602] sex, age, birth date, deprivation index, 16 PCs —
PPM010158 PGS001909
(portability-PLR_erythrocyte)
 PSS008501|
Greater Middle Eastern Ancestry|
1,153 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.3306 [0.2777, 0.3815] sex, age, birth date, deprivation index, 16 PCs —
PPM010159 PGS001909
(portability-PLR_erythrocyte)
 PSS008279|
South Asian Ancestry|
6,078 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.2916 [0.2684, 0.3145] sex, age, birth date, deprivation index, 16 PCs —
PPM010160 PGS001909
(portability-PLR_erythrocyte)
 PSS008056|
East Asian Ancestry|
1,762 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.2689 [0.2247, 0.3119] sex, age, birth date, deprivation index, 16 PCs —
PPM010161 PGS001909
(portability-PLR_erythrocyte)
 PSS007843|
African Ancestry|
2,342 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.1886 [0.149, 0.2275] sex, age, birth date, deprivation index, 16 PCs —
PPM010162 PGS001909
(portability-PLR_erythrocyte)
 PSS008947|
African Ancestry|
3,711 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.1298 [0.098, 0.1614] sex, age, birth date, deprivation index, 16 PCs —
PPM011839 PGS002123
(portability-ldpred2_erythrocyte)
 PSS009399|
European Ancestry|
19,422 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.39 [0.3781, 0.4019] sex, age, birth date, deprivation index, 16 PCs —
PPM011840 PGS002123
(portability-ldpred2_erythrocyte)
 PSS009173|
European Ancestry|
4,001 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.398 [0.3716, 0.4239] sex, age, birth date, deprivation index, 16 PCs —
PPM011841 PGS002123
(portability-ldpred2_erythrocyte)
 PSS008727|
European Ancestry|
6,437 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.3326 [0.3107, 0.3542] sex, age, birth date, deprivation index, 16 PCs —
PPM011842 PGS002123
(portability-ldpred2_erythrocyte)
 PSS008501|
Greater Middle Eastern Ancestry|
1,153 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.3308 [0.2779, 0.3816] sex, age, birth date, deprivation index, 16 PCs —
PPM011843 PGS002123
(portability-ldpred2_erythrocyte)
 PSS008279|
South Asian Ancestry|
6,078 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.2888 [0.2656, 0.3117] sex, age, birth date, deprivation index, 16 PCs —
PPM011844 PGS002123
(portability-ldpred2_erythrocyte)
 PSS008056|
East Asian Ancestry|
1,762 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.271 [0.2269, 0.314] sex, age, birth date, deprivation index, 16 PCs —
PPM011845 PGS002123
(portability-ldpred2_erythrocyte)
 PSS007843|
African Ancestry|
2,342 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.1984 [0.159, 0.2371] sex, age, birth date, deprivation index, 16 PCs —
PPM011846 PGS002123
(portability-ldpred2_erythrocyte)
 PSS008947|
African Ancestry|
3,711 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Red blood cell (erythrocyte) count — — Partial Correlation (partial-r): 0.1336 [0.1018, 0.1651] sex, age, birth date, deprivation index, 16 PCs —

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 —
PSS008947 — — 3,711 individuals — African unspecified Nigeria (West Africa) 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 —
PSS009173 — — 4,001 individuals — European Poland (NE Europe) UKB —
PSS009399 — — 19,422 individuals — European UK (+ Ireland) UKB —
PSS006896 — — 6,139 individuals — African unspecified — UKB —
PSS006897 — — 1,655 individuals — East Asian — UKB —
PSS006898 — — 24,175 individuals — European non-white British ancestry UKB —
PSS006899 — — 7,520 individuals — South Asian — UKB —
PSS006900 — — 65,638 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS008727 — — 6,437 individuals — European Italy (South Europe) UKB —
PSS008501 — — 1,153 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008279 — — 6,078 individuals — South Asian India (South Asia) UKB —
PSS008056 — — 1,762 individuals — East Asian China (East Asia) UKB —
PSS007843 — — 2,342 individuals — African American or Afro-Caribbean Carribean UKB —