Trait: hemoglobin measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004509
Description
  • hemoglobin levels
  • Hemoglobin measurement is a measure of the quantity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia.
Trait category
Hematological measurement
Synonyms 3 synonyms
  • hemoglobin count
  • Hb
  • haemoglobin measurement
Mapped term(s) NCIt:C64848

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000093 hgb PGP000051
Xu Y et al. bioRxiv (2020)
Pre
Hemoglobin concentration 532 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000093/ScoringFiles/PGS000093.txt.gz
PGS000168 hgb PGP000078
Vuckovic D et al. medRxiv (2020)
Pre
Hemoglobin concentration 515 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000168/ScoringFiles/PGS000168.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
PPM000218 PGS000093 (hgb) PSS000158 PGP000051
Xu Y et al. (2020)
Pre
Reported Trait: Hemoglobin concentration Pearson correlation coefficent (r): 0.3425 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)
PPM000219 PGS000093 (hgb) PSS000132 PGP000051
Xu Y et al. (2020)
Pre
Reported Trait: Hemoglobin concentration Pearson correlation coefficent (r): 0.2567 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)
PPM000549 PGS000168 (hgb) PSS000290 PGP000078
Vuckovic D et al. (2020)
Pre
Reported Trait: Hemoglobin concentration : 0.064603405584 sex, age, 10 genetic PCs
PPM000524 PGS000168 (hgb) PSS000291 PGP000078
Vuckovic D et al. (2020)
Pre
Reported Trait: Hemoglobin concentration : 0.0569660767976807 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
PSS000132 40,329 individuals,
49.0 % Male samples
Mean = 43.84 years
Range = [18.0, 76.4] years
European INTERVAL
PSS000158 81,548 individuals,
46.0 % Male samples
Mean = 57.23 years
Range = [40.16, 72.91] years
European UKB
PSS000290 2,314 individuals European
(French Canadian)
CARTaGENE
PSS000291 39,260 individuals European INTERVAL