Polygenic Score (PGS) ID: PGS002751

Predicted Trait
Reported Trait Body mass index
Mapped Trait(s) body mass index (EFO_0004340)
Released in PGS Catalog: Sept. 8, 2022
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Score Details

Score Construction
PGS Name GRSrare
Development Method
Name Genome-wide significant SNPs
Parameters NR
Variants
Original Genome Build NR
Number of Variants 14
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000363
Citation (link to publication) Sapkota Y et al. Nat Med (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 85.4%
South Asian: 5.6%
African: 5.2%
Hispanic or Latin American: 2%
East Asian: 1.7%
526,508 individuals (100%)
Score Development/Training
European: 100%
2,548 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST008129
Europe PMC: 29273807
449,889 individuals European NR
GWAS Catalog: GCST008129
Europe PMC: 29273807
29,398 individuals South Asian NR
GWAS Catalog: GCST008129
Europe PMC: 29273807
27,610 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST008129
Europe PMC: 29273807
8,839 individuals East Asian NR
GWAS Catalog: GCST008129
Europe PMC: 29273807
10,772 individuals Hispanic or Latin American NR
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
2,548 individuals,
52.8 % Male samples
European NR

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
PPM014943 PSS009938|
European Ancestry|
6,064 individuals
PGP000363 |
Sapkota Y et al. Nat Med (2022)
Reported Trait: Overweight Odds Ratio (OR, 10th vs. 1st decile): 1.78 [1.14, 2.79] Cubic splines (five knots at 19.8, 24.0, 28.9, 34.9 and 46.9 years) of age at body mass index assessment, 10 genetic PCs
PPM014944 PSS009938|
European Ancestry|
6,064 individuals
PGP000363 |
Sapkota Y et al. Nat Med (2022)
Reported Trait: Obesity Odds Ratio (OR, 10th vs. 1st decile): 1.37 [0.66, 2.88] Cubic splines (five knots at 19.8, 24.0, 28.9, 34.9 and 46.9 years) of age at body mass index assessment, 10 genetic 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
PSS009938 6,064 individuals,
47.9 % Male samples
European NR