Polygenic Score (PGS) ID: PGS001989

Predicted Trait
Reported Trait Mean corpuscular hemoglobin
Mapped Trait(s) mean corpuscular hemoglobin (EFO_0004527)
Additional Trait Information biological measures
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-PLR_MCH
Development Method
Name Penalized regression (bigstatsr)
Parameters HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 44,174
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000263
Citation (link to publication) Privé F et al. Am J Hum Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
391,124 individuals (100%)
PGS Evaluation
European: 37.5%
African: 25%
East Asian: 12.5%
Greater Middle Eastern: 12.5%
South Asian: 12.5%
8 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
— 391,124 individuals European UKB — — — UK (+ Ireland) —

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) 		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
PPM010787 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 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 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 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 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 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 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 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 —

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
PSS009151 — — 4,000 individuals — European Poland (NE Europe) UKB —
PSS007821 — — 2,343 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008257 — — 6,078 individuals — South Asian India (South Asia) UKB —
PSS009377 — — 19,421 individuals — European UK (+ Ireland) UKB —
PSS008925 — — 3,711 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008479 — — 1,153 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008705 — — 6,435 individuals — European Italy (South Europe) UKB —
PSS008035 — — 1,762 individuals — East Asian China (East Asia) UKB —