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
  • packed red-cell volume
  • packed erythrocyte volume
  • Ht
Mapped term(s) MSH:D006400

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000092 hct PGP000051
Xu Y et al. bioRxiv (2020)
Pre
Hematocrit 513 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000092/ScoringFiles/PGS000092.txt.gz
PGS000167 hct PGP000078
Vuckovic D et al. medRxiv (2020)
Pre
Hematocrit 502 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000167/ScoringFiles/PGS000167.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 the Model PGS Performance: Other Relevant Information
PPM000216 PGS000092 (hct) PSS000157 PGP000051
Xu Y et al. (2020)
Pre
Reported Trait: Hematocrit Pearson correlation coefficent (r): 0.3271 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 PGP000051
Xu Y et al. (2020)
Pre
Reported Trait: Hematocrit Pearson correlation coefficent (r): 0.2458 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)
PPM000548 PGS000167 (hct) PSS000290 PGP000078
Vuckovic D et al. (2020)
Pre
Reported Trait: Hematocrit : 0.05146781897104 sex, age, 10 genetic PCs
PPM000523 PGS000167 (hct) PSS000291 PGP000078
Vuckovic D et al. (2020)
Pre
Reported Trait: Hematocrit : 0.0493128145200219 sex, age, 10 genetic PCs

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
PSS000157 81,622 individuals,
46.0 % Male samples
Mean = 57.26 years
Range = [40.11, 72.44] years
European UKB
PSS000291 39,260 individuals European INTERVAL
PSS000290 2,314 individuals European
(French Canadian)
CARTaGENE
PSS000131 40,340 individuals,
49.0 % Male samples
Mean = 43.84 years
Range = [18.0, 76.4] years
European INTERVAL