Polygenic Score (PGS) ID: PGS002142

Predicted Trait
Reported Trait Haemoglobin concentration
Mapped Trait(s) hemoglobin measurement (EFO_0004509)
Additional Trait Information biological measures
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-ldpred2_haemoglobin
Development Method
Name LDpred2 (bigsnpr)
Parameters LDpred2-auto using HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 786,386
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
PPM011983 PSS009412|
European Ancestry|
19,423 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.3358 [0.3233, 0.3482] sex, age, birth date, deprivation index, 16 PCs —
PPM011984 PSS009186|
European Ancestry|
4,001 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.3107 [0.2824, 0.3385] sex, age, birth date, deprivation index, 16 PCs —
PPM011985 PSS008740|
European Ancestry|
6,436 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.2912 [0.2686, 0.3134] sex, age, birth date, deprivation index, 16 PCs —
PPM011986 PSS008514|
Greater Middle Eastern Ancestry|
1,153 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.2407 [0.185, 0.2948] sex, age, birth date, deprivation index, 16 PCs —
PPM011987 PSS008292|
South Asian Ancestry|
6,077 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.2123 [0.1881, 0.2362] sex, age, birth date, deprivation index, 16 PCs —
PPM011988 PSS008069|
East Asian Ancestry|
1,762 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.1969 [0.1513, 0.2416] sex, age, birth date, deprivation index, 16 PCs —
PPM011989 PSS007856|
African Ancestry|
2,340 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.1241 [0.0838, 0.164] sex, age, birth date, deprivation index, 16 PCs —
PPM011990 PSS008960|
African Ancestry|
3,709 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Haemoglobin concentration — — Partial Correlation (partial-r): 0.1255 [0.0936, 0.1572] 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
PSS009412 — — 19,423 individuals — European UK (+ Ireland) UKB —
PSS008740 — — 6,436 individuals — European Italy (South Europe) UKB —
PSS008292 — — 6,077 individuals — South Asian India (South Asia) UKB —
PSS008069 — — 1,762 individuals — East Asian China (East Asia) UKB —
PSS007856 — — 2,340 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009186 — — 4,001 individuals — European Poland (NE Europe) UKB —
PSS008960 — — 3,709 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008514 — — 1,153 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —