Polygenic Score (PGS) ID: PGS000716

Predicted Trait
Reported Trait Early life body size
Mapped Trait(s)
Released in PGS Catalog: Feb. 3, 2021
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Score Details

Score Construction
PGS Name PGS295_elbs
Development Method
Name Genome-wide significant variants
Parameters p<5e-8
Variants
Original Genome Build NR
Number of Variants 295
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000132
Citation (link to publication) Richardson TG et al. BMJ (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
453,169 individuals (100%)
PGS Evaluation
European: 92.9%
Multi-ancestry (including European): 7.1%
  • European
  • Not Reported
14 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 32376654
453,169 individuals European UKB

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
PPM001708 PSS000883|
European Ancestry|
62,541 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 30-69.9 AUROC: 0.569 [0.564, 0.574] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001709 PSS000876|
European Ancestry|
3,124 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 12-15.9 AUROC: 0.656 [0.626, 0.686] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001710 PSS000878|
European Ancestry|
2,896 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 16-17.9 AUROC: 0.623 [0.589, 0.657] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001711 PSS000880|
European Ancestry|
12,179 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 18-23.9 AUROC: 0.601 [0.589, 0.612] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001712 PSS000882|
European Ancestry|
17,139 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 14-29.9 AUROC: 0.591 [0.582, 0.6] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001713 PSS000884|
European Ancestry|
62,541 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 30-69.9 AUROC: 0.568 [0.563, 0.573] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001707 PSS000879|
European Ancestry|
12,179 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 18-23.9 AUROC: 0.618 [0.594, 0.641] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001687 PSS000879|
European Ancestry|
12,179 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 18-23.9 AUROC: 0.619 [0.596, 0.643] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001688 PSS000881|
European Ancestry|
17,139 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 24-29.9 AUROC: 0.602 [0.585, 0.618] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001689 PSS000883|
European Ancestry|
62,541 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 30-69.9 AUROC: 0.569 [0.564, 0.574] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001690 PSS000876|
European Ancestry|
3,124 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 12-15.9 AUROC: 0.658 [0.628, 0.687] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001691 PSS000878|
European Ancestry|
2,896 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 16-17.9 AUROC: 0.624 [0.589, 0.658] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001692 PSS000880|
European Ancestry|
12,179 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 18-23.9 AUROC: 0.602 [0.59, 0.613] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001693 PSS000882|
European Ancestry|
17,139 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 14-29.9 AUROC: 0.591 [0.582, 0.6] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001633 PSS000849|
European Ancestry|
5,898 individuals
PGP000132 |
Richardson TG et al. BMJ (2020)
Reported Trait: Childhood body mass index AUROC: 0.64
PPM001635 PSS000847|
European Ancestry|
3,997 individuals
PGP000132 |
Richardson TG et al. BMJ (2020)
Reported Trait: Adolescent body mass index AUROC: 0.63
PPM001637 PSS000848|
European Ancestry|
2,199 individuals
PGP000132 |
Richardson TG et al. BMJ (2020)
Reported Trait: Adult body mass index AUROC: 0.57
PPM001705 PSS000875|
European Ancestry|
3,124 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 12-15.9 AUROC: 0.739 [0.667, 0.811] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001706 PSS000877|
European Ancestry|
2,896 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 16-17.9 AUROC: 0.66 [0.566, 0.754] Due to a lack of information in the HUNT dataset, only 277 of the 295 common variants used to build the childhood score by Richardson et al were included.
PPM001685 PSS000875|
European Ancestry|
3,124 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 12-15.9 AUROC: 0.735 [0.663, 0.806] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001686 PSS000877|
European Ancestry|
2,896 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Obesity in individuals aged 16-17.9 AUROC: 0.672 [0.577, 0.766] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM001694 PSS000884|
European Ancestry|
62,541 individuals
PGP000140 |
Brandkvist M et al. Hum Mol Genet (2020)
|Ext.
Reported Trait: Overweight in individuals aged 30-69.9 AUROC: 0.568 [0.563, 0.573] Due to a lack of information in the HUNT dataset, only 289 of the 295 common variants used to build the childhood score by Richardson et al were included. Additionally, 11 of the 289 common variants were proxies. Proxy SNPs were accepted if they had an R^2 ≥0.8 as well as a D’ ≥0.95 using publicly available reference haplotypes of a European British in England and Scotland population from Phase 3 (Version 5) of the 1000 Genomes Project.
PPM021771 PSS011792|
Multi-ancestry (including European)|
236 individuals
PGP000677 |
Renier TJ et al. Int J Obes (Lond) (2023)
|Ext.
Reported Trait: BMI in children HR: 0.23 [0.11, 0.34] Age, sex, ancestry, parent education, and study

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
PSS000847 Measurs of BMI were dichotomised to classify individuals higher than th 85th centiles as overweight. 3,997 individuals Mean = 17.8 years European ALSPAC ALSPAC offspring
PSS000848 Measurs of BMI were dichotomised to classify individuals higher than th 85th centiles as overweight. 2,199 individuals,
0.0 % Male samples
Mean = 50.8 years European ALSPAC ALSPAC mothers
PSS000849 Measurs of BMI were dichotomised to classify individuals higher than th 85th centiles as overweight. 5,898 individuals Mean = 9.9 years European ALSPAC ALSPAC offspring
PSS000876 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth. To defiine corresponding cut-offs for obesity and overweight for participants younger than 18 years, BMI z score was calulated using age and sex specific reference from the International Obesity Task Force.
[
  • 344 cases
  • , 2,780 controls
]
European HUNT
PSS000875 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth. To defiine corresponding cut-offs for obesity and overweight for participants younger than 18 years, BMI z score was calulated using age and sex specific reference from the International Obesity Task Force.
[
  • 37 cases
  • , 3,087 controls
]
European HUNT
PSS000878 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth. To defiine corresponding cut-offs for obesity and overweight for participants younger than 18 years, BMI z score was calulated using age and sex specific reference from the International Obesity Task Force.
[
  • 274 cases
  • , 2,622 controls
]
European HUNT
PSS000879 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth.
[
  • 542 cases
  • , 11,637 controls
]
European HUNT
PSS000880 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth.
[
  • 2,898 cases
  • , 9,281 controls
]
European HUNT
PSS000881 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth.
[
  • 1,240 cases
  • , 15,899 controls
]
European HUNT
PSS000882 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth.
[
  • 5,775 cases
  • , 11,364 controls
]
European HUNT
PSS000883 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth.
[
  • 15,112 cases
  • , 47,429 controls
]
European HUNT
PSS000884 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth.
[
  • 43,408 cases
  • , 19,133 controls
]
European HUNT
PSS000877 BMI was calculated as weight in kilograms per height in metres squared. Weight was measured to the nearest half kilogram wih participants wearing light cloes and no shoes and height was measured to the nearest centimeter. WHO defines overweight as BMI greater than or equal to 25 and obesity as BMI greater than or equal to 30. BMI strongly related to longitudinal growth. To defiine corresponding cut-offs for obesity and overweight for participants younger than 18 years, BMI z score was calulated using age and sex specific reference from the International Obesity Task Force.
[
  • 30 cases
  • , 2,866 controls
]
European HUNT
PSS011792 213 individuals European NR
PSS011792 23 individuals Not reported NR