Polygenic Score (PGS) ID: PGS002008

Predicted Trait
Reported Trait Mean sphered cell volume
Mapped Trait(s) hematological measurement (EFO_0004503)
Additional Trait Information biological measures
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-PLR_sphered_cell_volume
Development Method
Name Penalized regression (bigstatsr)
Parameters HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 50,360
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
PPM010938 PSS009493|
European Ancestry|
19,116 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.4104 [0.3985, 0.4221] sex, age, birth date, deprivation index, 16 PCs
PPM010939 PSS009267|
European Ancestry|
3,924 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.387 [0.36, 0.4134] sex, age, birth date, deprivation index, 16 PCs
PPM010940 PSS008821|
European Ancestry|
6,293 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.3684 [0.3468, 0.3896] sex, age, birth date, deprivation index, 16 PCs
PPM010942 PSS008373|
South Asian Ancestry|
5,934 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.3247 [0.3018, 0.3474] sex, age, birth date, deprivation index, 16 PCs
PPM010943 PSS008149|
East Asian Ancestry|
1,722 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.2632 [0.2185, 0.3069] sex, age, birth date, deprivation index, 16 PCs
PPM010944 PSS007937|
African Ancestry|
2,292 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.2172 [0.1777, 0.256] sex, age, birth date, deprivation index, 16 PCs
PPM010945 PSS009041|
African Ancestry|
3,601 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.1513 [0.1191, 0.1832] sex, age, birth date, deprivation index, 16 PCs
PPM010941 PSS008595|
Greater Middle Eastern Ancestry|
1,126 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Mean sphered cell volume Partial Correlation (partial-r): 0.361 [0.3086, 0.4112] 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
PSS009041 3,601 individuals African unspecified Nigeria (West Africa) UKB
PSS009267 3,924 individuals European Poland (NE Europe) UKB
PSS008595 1,126 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009493 19,116 individuals European UK (+ Ireland) UKB
PSS008821 6,293 individuals European Italy (South Europe) UKB
PSS008373 5,934 individuals South Asian India (South Asia) UKB
PSS008149 1,722 individuals East Asian China (East Asia) UKB
PSS007937 2,292 individuals African American or Afro-Caribbean Carribean UKB