Trait: mean corpuscular hemoglobin

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004527
Description The MCH is the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count
Trait category
Hematological measurement
Synonyms 2 synonyms
  • MCH
  • mean corpuscular haemoglobin
Mapped term MedDRA:10055624

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)
PGS000099
(mch)
PGP000051 |
Xu Y et al. Cell Genom (2022)
Mean corpuscular hemoglobin mean corpuscular hemoglobin 27,081
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000099/ScoringFiles/PGS000099.txt.gz
PGS000174
(mch)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean corpuscular hemoglobin mean corpuscular hemoglobin 628
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000174/ScoringFiles/PGS000174.txt.gz
PGS001219
(GBE_INI30050)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Mean corpuscular hemoglobin mean corpuscular hemoglobin 13,003
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001219/ScoringFiles/PGS001219.txt.gz
PGS001989
(portability-PLR_MCH)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Mean corpuscular haemoglobin mean corpuscular hemoglobin 44,174
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001989/ScoringFiles/PGS001989.txt.gz
PGS002206
(portability-ldpred2_MCH)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Mean corpuscular haemoglobin mean corpuscular hemoglobin 504,929
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002206/ScoringFiles/PGS002206.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
PPM000230 PGS000099
(mch)
PSS000164|
European Ancestry|
81,303 individuals
PGP000051 |
Xu Y et al. Cell Genom (2022)
Reported Trait: Mean corpuscular hemoglobin Pearson correlation coefficent (r): 0.54504 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)
PPM000231 PGS000099
(mch)
PSS000138|
European Ancestry|
40,108 individuals
PGP000051 |
Xu Y et al. Cell Genom (2022)
Reported Trait: Mean corpuscular hemoglobin Pearson correlation coefficent (r): 0.49689 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)
PPM000552 PGS000174
(mch)
PSS000290|
European Ancestry|
2,314 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Mean corpuscular hemoglobin : 0.17483 sex, age, 10 genetic PCs
PPM000530 PGS000174
(mch)
PSS000291|
European Ancestry|
39,260 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Mean corpuscular hemoglobin : 0.18282 sex, age, 10 genetic PCs
PPM001773 PGS000174
(mch)
PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.
Reported Trait: Mean corpuscular hemoglobin Pearson correlation coefficent (r): 0.22
PPM008629 PGS001219
(GBE_INI30050)
PSS006931|
African Ancestry|
6,139 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Mean corpuscular haemoglobin : 0.03354 [0.02494, 0.04215]
Incremental R2 (full-covars): 0.00833
PGS R2 (no covariates): 0.01254 [0.00717, 0.01792]
age, sex, UKB array type, Genotype PCs
PPM008630 PGS001219
(GBE_INI30050)
PSS006932|
East Asian Ancestry|
1,655 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Mean corpuscular haemoglobin : 0.0892 [0.06342, 0.11498]
Incremental R2 (full-covars): 0.03143
PGS R2 (no covariates): 0.0524 [0.03184, 0.07296]
age, sex, UKB array type, Genotype PCs
PPM008631 PGS001219
(GBE_INI30050)
PSS006933|
European Ancestry|
24,175 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Mean corpuscular haemoglobin : 0.16096 [0.1526, 0.16932]
Incremental R2 (full-covars): 0.12049
PGS R2 (no covariates): 0.13012 [0.12233, 0.13791]
age, sex, UKB array type, Genotype PCs
PPM008632 PGS001219
(GBE_INI30050)
PSS006934|
South Asian Ancestry|
7,520 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Mean corpuscular haemoglobin : 0.11958 [0.1061, 0.13306]
Incremental R2 (full-covars): 0.06684
PGS R2 (no covariates): 0.07101 [0.06005, 0.08197]
age, sex, UKB array type, Genotype PCs
PPM008633 PGS001219
(GBE_INI30050)
PSS006935|
European Ancestry|
65,638 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Mean corpuscular haemoglobin : 0.18797 [0.18266, 0.19328]
Incremental R2 (full-covars): 0.1678
PGS R2 (no covariates): 0.1703 [0.16513, 0.17547]
age, sex, UKB array type, Genotype PCs
PPM010787 PGS001989
(portability-PLR_MCH)
PSS009377|
European Ancestry|
19,421 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.4309 [0.4194, 0.4423] sex, age, birth date, deprivation index, 16 PCs
PPM010788 PGS001989
(portability-PLR_MCH)
PSS009151|
European Ancestry|
4,000 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.384 [0.3572, 0.4102] sex, age, birth date, deprivation index, 16 PCs
PPM010789 PGS001989
(portability-PLR_MCH)
PSS008705|
European Ancestry|
6,435 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.317 [0.2948, 0.3388] sex, age, birth date, deprivation index, 16 PCs
PPM010790 PGS001989
(portability-PLR_MCH)
PSS008479|
Greater Middle Eastern Ancestry|
1,153 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.2578 [0.2026, 0.3114] sex, age, birth date, deprivation index, 16 PCs
PPM010791 PGS001989
(portability-PLR_MCH)
PSS008257|
South Asian Ancestry|
6,078 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.2698 [0.2462, 0.2929] sex, age, birth date, deprivation index, 16 PCs
PPM010792 PGS001989
(portability-PLR_MCH)
PSS008035|
East Asian Ancestry|
1,762 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.2299 [0.1849, 0.2739] sex, age, birth date, deprivation index, 16 PCs
PPM010793 PGS001989
(portability-PLR_MCH)
PSS007821|
African Ancestry|
2,343 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.1586 [0.1187, 0.198] sex, age, birth date, deprivation index, 16 PCs
PPM010794 PGS001989
(portability-PLR_MCH)
PSS008925|
African Ancestry|
3,711 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.1189 [0.087, 0.1506] sex, age, birth date, deprivation index, 16 PCs
PPM012495 PGS002206
(portability-ldpred2_MCH)
PSS009377|
European Ancestry|
19,421 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.427 [0.4154, 0.4384] sex, age, birth date, deprivation index, 16 PCs
PPM012496 PGS002206
(portability-ldpred2_MCH)
PSS009151|
European Ancestry|
4,000 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.3723 [0.3453, 0.3988] sex, age, birth date, deprivation index, 16 PCs
PPM012497 PGS002206
(portability-ldpred2_MCH)
PSS008705|
European Ancestry|
6,435 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.3119 [0.2897, 0.3338] sex, age, birth date, deprivation index, 16 PCs
PPM012498 PGS002206
(portability-ldpred2_MCH)
PSS008479|
Greater Middle Eastern Ancestry|
1,153 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.2511 [0.1957, 0.3049] sex, age, birth date, deprivation index, 16 PCs
PPM012499 PGS002206
(portability-ldpred2_MCH)
PSS008257|
South Asian Ancestry|
6,078 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.2691 [0.2455, 0.2923] sex, age, birth date, deprivation index, 16 PCs
PPM012500 PGS002206
(portability-ldpred2_MCH)
PSS008035|
East Asian Ancestry|
1,762 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.2349 [0.19, 0.2787] sex, age, birth date, deprivation index, 16 PCs
PPM012501 PGS002206
(portability-ldpred2_MCH)
PSS007821|
African Ancestry|
2,343 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.1483 [0.1083, 0.1879] sex, age, birth date, deprivation index, 16 PCs
PPM012502 PGS002206
(portability-ldpred2_MCH)
PSS008925|
African Ancestry|
3,711 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean corpuscular haemoglobin Partial Correlation (partial-r): 0.1335 [0.1017, 0.1651] sex, age, birth date, deprivation index, 16 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
PSS000164 81,303 individuals,
46.0 % Male samples
Mean = 57.27 years
Range = [39.99, 70.44] years
European UKB
PSS008705 6,435 individuals European Italy (South Europe) UKB
PSS000290 2,314 individuals European
(French Canadian)
CARTaGENE
PSS000138 40,108 individuals,
50.0 % Male samples
Mean = 43.85 years
Range = [18.0, 76.4] years
European INTERVAL
PSS000291 39,260 individuals European INTERVAL
PSS009151 4,000 individuals European Poland (NE Europe) UKB
PSS007821 2,343 individuals African American or Afro-Caribbean Carribean UKB
PSS000911 13,989 individuals Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)
QBB
PSS008479 1,153 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008257 6,078 individuals South Asian India (South Asia) UKB
PSS008925 3,711 individuals African unspecified Nigeria (West Africa) UKB
PSS006931 6,139 individuals African unspecified UKB
PSS006932 1,655 individuals East Asian UKB
PSS006933 24,175 individuals European non-white British ancestry UKB
PSS006934 7,520 individuals South Asian UKB
PSS006935 65,638 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS009377 19,421 individuals European UK (+ Ireland) UKB
PSS008035 1,762 individuals East Asian China (East Asia) UKB