Trait: mean corpuscular hemoglobin concentration

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
  • CHCM
  • Corpuscular HGB Concentration Mean
  • Corpuscular Hemoglobin Concentration Mean
  • Erythrocyte Corpuscular Hemoglobin Concentration Mean
  • MCHC
  • mean corpuscular haemoglobin concentration
Mapped term NCIt:C139067

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)
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

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
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 —

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
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 —