Trait: hematocrit

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004348
Description The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value.
Trait category
Hematological measurement
Synonyms 3 synonyms
  • Ht
  • packed erythrocyte volume
  • packed red-cell volume
Mapped terms 2 mapped terms
  • MeSH:D006400
  • MedDRA:10019422

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)
PGS000092
(hct)
PGP000051 |
Xu Y et al. Cell Genom (2022)
Hematocrit hematocrit 28,214
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000092/ScoringFiles/PGS000092.txt.gz
PGS000167
(hct)
PGP000078 |
Vuckovic D et al. Cell (2020)
Hematocrit hematocrit 502
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000167/ScoringFiles/PGS000167.txt.gz
PGS001225
(GBE_INI30030)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Percentage of hematocrit hematocrit 15,721
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001225/ScoringFiles/PGS001225.txt.gz
PGS001925
(portability-PLR_haematocrit_perc)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Haematocrit percentage hematocrit 67,571
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001925/ScoringFiles/PGS001925.txt.gz
PGS002141
(portability-ldpred2_haematocrit_perc)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Haematocrit percentage hematocrit 797,804
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002141/ScoringFiles/PGS002141.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
PPM000216 PGS000092
(hct)
PSS000157|
European Ancestry|
81,622 individuals
PGP000051 |
Xu Y et al. Cell Genom (2022)
Reported Trait: Hematocrit Pearson correlation coefficent (r): 0.36874 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)
PPM000217 PGS000092
(hct)
PSS000131|
European Ancestry|
40,340 individuals
PGP000051 |
Xu Y et al. Cell Genom (2022)
Reported Trait: Hematocrit Pearson correlation coefficent (r): 0.29832 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)
PPM001777 PGS000167
(hct)
PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.
Reported Trait: Hematocrit Pearson correlation coefficent (r): 0.15
PPM000548 PGS000167
(hct)
PSS000290|
European Ancestry|
2,314 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Hematocrit : 0.05147 sex, age, 10 genetic PCs
PPM000523 PGS000167
(hct)
PSS000291|
European Ancestry|
39,260 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Hematocrit : 0.04931 sex, age, 10 genetic PCs
PPM008639 PGS001225
(GBE_INI30030)
PSS006921|
African Ancestry|
6,139 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % Incremental R2 (full-covars): 0.01035
: 0.39181 [0.37331, 0.41032]
PGS R2 (no covariates): 0.01326 [0.00774, 0.01879]
age, sex, UKB array type, Genotype PCs
PPM008640 PGS001225
(GBE_INI30030)
PSS006922|
East Asian Ancestry|
1,655 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.4128 [0.37705, 0.44856]
Incremental R2 (full-covars): 0.02196
PGS R2 (no covariates): 0.02063 [0.0073, 0.03396]
age, sex, UKB array type, Genotype PCs
PPM008641 PGS001225
(GBE_INI30030)
PSS006923|
European Ancestry|
24,175 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.396 [0.38656, 0.40544]
Incremental R2 (full-covars): 0.05878
PGS R2 (no covariates): 0.06263 [0.0568, 0.06846]
age, sex, UKB array type, Genotype PCs
PPM008642 PGS001225
(GBE_INI30030)
PSS006924|
South Asian Ancestry|
7,520 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.4249 [0.4083, 0.4415]
Incremental R2 (full-covars): 0.02482
PGS R2 (no covariates): 0.0222 [0.01575, 0.02865]
age, sex, UKB array type, Genotype PCs
PPM008643 PGS001225
(GBE_INI30030)
PSS006925|
European Ancestry|
65,638 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.39123 [0.38548, 0.39698]
Incremental R2 (full-covars): 0.06504
PGS R2 (no covariates): 0.06544 [0.06183, 0.06904]
age, sex, UKB array type, Genotype PCs
PPM010275 PGS001925
(portability-PLR_haematocrit_perc)
PSS009411|
European Ancestry|
19,423 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.3256 [0.3129, 0.3381] sex, age, birth date, deprivation index, 16 PCs
PPM010276 PGS001925
(portability-PLR_haematocrit_perc)
PSS009185|
European Ancestry|
4,002 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.3126 [0.2843, 0.3404] sex, age, birth date, deprivation index, 16 PCs
PPM010277 PGS001925
(portability-PLR_haematocrit_perc)
PSS008739|
European Ancestry|
6,437 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.2824 [0.2597, 0.3047] sex, age, birth date, deprivation index, 16 PCs
PPM010278 PGS001925
(portability-PLR_haematocrit_perc)
PSS008513|
Greater Middle Eastern Ancestry|
1,153 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.2516 [0.1962, 0.3053] sex, age, birth date, deprivation index, 16 PCs
PPM010281 PGS001925
(portability-PLR_haematocrit_perc)
PSS007855|
African Ancestry|
2,343 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.13 [0.0898, 0.1698] sex, age, birth date, deprivation index, 16 PCs
PPM010282 PGS001925
(portability-PLR_haematocrit_perc)
PSS008959|
African Ancestry|
3,711 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.1286 [0.0967, 0.1602] sex, age, birth date, deprivation index, 16 PCs
PPM010279 PGS001925
(portability-PLR_haematocrit_perc)
PSS008291|
South Asian Ancestry|
6,078 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.2255 [0.2015, 0.2493] sex, age, birth date, deprivation index, 16 PCs
PPM010280 PGS001925
(portability-PLR_haematocrit_perc)
PSS008068|
East Asian Ancestry|
1,762 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.2014 [0.1559, 0.2461] sex, age, birth date, deprivation index, 16 PCs
PPM011981 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS007855|
African Ancestry|
2,343 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.1376 [0.0974, 0.1772] sex, age, birth date, deprivation index, 16 PCs
PPM011975 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS009411|
European Ancestry|
19,423 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.3167 [0.304, 0.3293] sex, age, birth date, deprivation index, 16 PCs
PPM011976 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS009185|
European Ancestry|
4,002 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.3059 [0.2775, 0.3338] sex, age, birth date, deprivation index, 16 PCs
PPM011977 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS008739|
European Ancestry|
6,437 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.2833 [0.2607, 0.3057] sex, age, birth date, deprivation index, 16 PCs
PPM011978 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS008513|
Greater Middle Eastern Ancestry|
1,153 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.2387 [0.183, 0.2929] sex, age, birth date, deprivation index, 16 PCs
PPM011979 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS008291|
South Asian Ancestry|
6,078 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.224 [0.1999, 0.2478] sex, age, birth date, deprivation index, 16 PCs
PPM011980 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS008068|
East Asian Ancestry|
1,762 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.1992 [0.1536, 0.2438] sex, age, birth date, deprivation index, 16 PCs
PPM011982 PGS002141
(portability-ldpred2_haematocrit_perc)
PSS008959|
African Ancestry|
3,711 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Haematocrit percentage Partial Correlation (partial-r): 0.1335 [0.1016, 0.165] 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
PSS008291 6,078 individuals South Asian India (South Asia) UKB
PSS008068 1,762 individuals East Asian China (East Asia) UKB
PSS009411 19,423 individuals European UK (+ Ireland) UKB
PSS000290 2,314 individuals European
(French Canadian)
CARTaGENE
PSS000291 39,260 individuals European INTERVAL
PSS007855 2,343 individuals African American or Afro-Caribbean Carribean UKB
PSS006921 6,139 individuals African unspecified UKB
PSS006922 1,655 individuals East Asian UKB
PSS006923 24,175 individuals European non-white British ancestry UKB
PSS000911 13,989 individuals Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)
QBB
PSS006924 7,520 individuals South Asian UKB
PSS006925 65,638 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS008739 6,437 individuals European Italy (South Europe) UKB
PSS000157 81,622 individuals,
46.0 % Male samples
Mean = 57.26 years
Range = [40.11, 72.44] years
European UKB
PSS008959 3,711 individuals African unspecified Nigeria (West Africa) UKB
PSS008513 1,153 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009185 4,002 individuals European Poland (NE Europe) UKB
PSS000131 40,340 individuals,
49.0 % Male samples
Mean = 43.84 years
Range = [18.0, 76.4] years
European INTERVAL