Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0004528 |
Description | The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell | Trait category |
Hematological measurement
|
Synonyms |
6 synonyms
|
Mapped term | NCIt:C139067 |
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | Ancestry distribution | Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000100 (mchc) |
PGP000051 | Xu Y et al. Cell Genom (2022) |
Mean corpuscular hemoglobin concentration | mean corpuscular hemoglobin concentration | 11,832 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000100/ScoringFiles/PGS000100.txt.gz | |
PGS000175 (mchc) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Mean corpuscular hemoglobin concentration | mean corpuscular hemoglobin concentration | 224 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000175/ScoringFiles/PGS000175.txt.gz |
PGS001218 (GBE_INI30060) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Mean corpuscular haemoglobin concentration | mean corpuscular hemoglobin concentration | 2,359 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001218/ScoringFiles/PGS001218.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM000232 | PGS000100 (mchc) |
PSS000165| European Ancestry| 81,570 individuals |
PGP000051 | Xu Y et al. Cell Genom (2022) |
Reported Trait: Mean corpuscular hemoglobin concentration | — | — | Pearson correlation coefficent (r): 0.2805 | 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) |
PPM000233 | PGS000100 (mchc) |
PSS000139| European Ancestry| 40,265 individuals |
PGP000051 | Xu Y et al. Cell Genom (2022) |
Reported Trait: Mean corpuscular hemoglobin concentration | — | — | Pearson correlation coefficent (r): 0.29105 | 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) | — |
PPM000551 | PGS000175 (mchc) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular hemoglobin concentration | — | — | R²: 0.04796 | sex, age, 10 genetic PCs | — |
PPM000531 | PGS000175 (mchc) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular hemoglobin concentration | — | — | R²: 0.05159 | sex, age, 10 genetic PCs | — |
PPM001772 | PGS000175 (mchc) |
PSS000911| Greater Middle Eastern Ancestry| 13,989 individuals |
PGP000147 | Thareja G et al. Nat Commun (2021) |Ext. |
Reported Trait: Mean cell hemoglobin concentration | — | — | Pearson correlation coefficent (r): 0.12 | — | — |
PPM008624 | PGS001218 (GBE_INI30060) |
PSS006936| African Ancestry| 6,139 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Mean corpuscular haemoglobin concentration | — | — | R²: 0.01334 [0.0078, 0.01888] Incremental R2 (full-covars): 0.0007 PGS R2 (no covariates): 0.00244 [0.00004, 0.00483] |
age, sex, UKB array type, Genotype PCs | — |
PPM008625 | PGS001218 (GBE_INI30060) |
PSS006937| East Asian Ancestry| 1,655 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Mean corpuscular haemoglobin concentration | — | — | R²: 0.05415 [0.03329, 0.07501] Incremental R2 (full-covars): 0.01409 PGS R2 (no covariates): 0.01986 [0.00677, 0.03295] |
age, sex, UKB array type, Genotype PCs | — |
PPM008626 | PGS001218 (GBE_INI30060) |
PSS006938| European Ancestry| 24,175 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Mean corpuscular haemoglobin concentration | — | — | R²: 0.02769 [0.02367, 0.03171] Incremental R2 (full-covars): 0.01601 PGS R2 (no covariates): 0.01701 [0.01382, 0.02019] |
age, sex, UKB array type, Genotype PCs | — |
PPM008627 | PGS001218 (GBE_INI30060) |
PSS006939| South Asian Ancestry| 7,520 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Mean corpuscular haemoglobin concentration | — | — | R²: 0.04592 [0.03687, 0.05498] Incremental R2 (full-covars): 0.01608 PGS R2 (no covariates): 0.01906 [0.01306, 0.02505] |
age, sex, UKB array type, Genotype PCs | — |
PPM008628 | PGS001218 (GBE_INI30060) |
PSS006940| European Ancestry| 65,635 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Mean corpuscular haemoglobin concentration | — | — | R²: 0.03753 [0.03472, 0.04035] Incremental R2 (full-covars): 0.02447 PGS R2 (no covariates): 0.02534 [0.023, 0.02768] |
age, sex, UKB array type, Genotype PCs | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS006940 | — | — | 65,635 individuals | — | European | white British ancestry | UKB | Testing cohort (heldout set) |
PSS000165 | — | — | 81,570 individuals, 46.0 % Male samples |
Mean = 57.27 years Range = [39.98, 70.7] years |
European | — | UKB | — |
PSS000290 | — | — | 2,314 individuals | — | European (French Canadian) |
— | CARTaGENE | — |
PSS000291 | — | — | 39,260 individuals | — | European | — | INTERVAL | — |
PSS000139 | — | — | 40,265 individuals, 50.0 % Male samples |
Mean = 43.83 years Range = [18.0, 76.4] years |
European | — | INTERVAL | — |
PSS000911 | — | — | 13,989 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) (Qatari) |
— | QBB | — |
PSS006936 | — | — | 6,139 individuals | — | African unspecified | — | UKB | — |
PSS006937 | — | — | 1,655 individuals | — | East Asian | — | UKB | — |
PSS006938 | — | — | 24,175 individuals | — | European | non-white British ancestry | UKB | — |
PSS006939 | — | — | 7,520 individuals | — | South Asian | — | UKB | — |