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
GWAS
Dev
Eval
 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 hemoglobin concentration mean corpuscular hemoglobin concentration 2,359
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001218/ScoringFiles/PGS001218.txt.gz
PGS003930
(INI30060)
 PGP000502 |
Tanigawa Y et al. AJHG (2023)
 Mean corpuscular hemoglobin concentration mean corpuscular hemoglobin concentration 4,468
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003930/ScoringFiles/PGS003930.txt.gz
PGS004350
(X30050.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Mean corpuscular haemoglobin mean corpuscular hemoglobin concentration 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004350/ScoringFiles/PGS004350.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 —
PPM018969 PGS003930
(INI30060)
 PSS011137|
European Ancestry|
65,929 individuals
 PGP000502 |
Tanigawa Y et al. AJHG (2023)
 Reported Trait: Mean corpuscular hemoglobin concentration — — R²: 0.03988 [0.03699, 0.04277]
PGS R2 (no covariates): 0.0253 [0.02296, 0.02763]
Incremental R2 (full-covars): 0.02492		 age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18) —
PPM018970 PGS003930
(INI30060)
 PSS011109|
European Ancestry|
2,813 individuals
 PGP000502 |
Tanigawa Y et al. AJHG (2023)
 Reported Trait: Mean corpuscular hemoglobin concentration — — R²: 0.0486 [0.03333, 0.06386]
PGS R2 (no covariates): 0.03186 [0.01929, 0.04444]
Incremental R2 (full-covars): 0.02908		 age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18) —
PPM018971 PGS003930
(INI30060)
 PSS011113|
South Asian Ancestry|
1,433 individuals
 PGP000502 |
Tanigawa Y et al. AJHG (2023)
 Reported Trait: Mean corpuscular hemoglobin concentration — — R²: 0.0252 [0.0095, 0.04089]
PGS R2 (no covariates): 0.01719 [0.00412, 0.03026]
Incremental R2 (full-covars): 0.01588		 age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18) —
PPM018973 PGS003930
(INI30060)
 PSS011166|
Multi-ancestry (excluding European)|
7,746 individuals
 PGP000502 |
Tanigawa Y et al. AJHG (2023)
 Reported Trait: Mean corpuscular hemoglobin concentration — — R²: 0.04959 [0.04032, 0.05886]
PGS R2 (no covariates): 0.02383 [0.01723, 0.03043]
Incremental R2 (full-covars): 0.01421		 age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18) —
PPM018972 PGS003930
(INI30060)
 PSS011155|
African Ancestry|
1,157 individuals
 PGP000502 |
Tanigawa Y et al. AJHG (2023)
 Reported Trait: Mean corpuscular hemoglobin concentration — — R²: 0.01616 [0.00212, 0.03019]
PGS R2 (no covariates): 0.00861 [-0.00171, 0.01894]
Incremental R2 (full-covars): 0.00736		 age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18) —
PPM020465 PGS004350
(X30050.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Mean corpuscular haemoglobin — — PGS R2 (no covariates): 0.31917 — —

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 —
PSS011109 — — 2,813 individuals — European
(non-white British ancestry)		 — UKB —
PSS011113 — — 1,433 individuals — South Asian — 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 —
PSS011155 — — 1,157 individuals — African unspecified — UKB —
PSS000911 — — 13,989 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)		 — QBB —
PSS011137 — — 65,929 individuals — European
(white British ancestry)		 — UKB —
PSS011166 — — 7,746 individuals — East Asian, Other admixed ancestry East Asian, Other admixed ancestry UKB —
PSS011364 — — 56,192 individuals — European — UKB —
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 —