Polygenic Score (PGS) ID: PGS004120

Predicted Trait
Reported Trait Body mass index (BMI)
Mapped Trait(s) body mass index (EFO_0004340)
Released in PGS Catalog: Dec. 19, 2023
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Score Details

Score Construction
PGS Name pt_clump_nested.CV.GCST002783.BMI
Development Method
Name pt_clump_nested.CV
Parameters p0.01, r2 = 0.1, window = 250kb
Variants
Original Genome Build GRCh38
Number of Variants 23,190
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000517
Citation (link to publication) Monti R et al. Am J Hum Genet (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 99.1%
Hispanic or Latin American: 0.5%
African: 0.4%
238,944 individuals (100%)
Score Development/Training
European: 100%
359,913 individuals (100%)
PGS Evaluation
European: 60%
South Asian: 40%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST002783
Europe PMC: 25673413
 236,781 individuals European NR
GWAS Catalog: GCST002783
Europe PMC: 25673413
 887 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST002783
Europe PMC: 25673413
 1,276 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
— 359,913 individuals European UKB data field 21001 — — — —

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
PPM019150 PSS011214|
European Ancestry|
189,651 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Body Mass Index β: 0.22681 [0.22242211, 0.23118879] — R²: 0.05144 [0.04947159, 0.05344825] 0 beta = sd_trait/sd_pgs = pearson correlation
PPM019151 PSS011237|
South Asian Ancestry|
33,146 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Body Mass Index β: 0.13234 [0.12167305, 0.14301522] — R²: 0.01751 [0.01480433, 0.02045335] 0 beta = sd_trait/sd_pgs = pearson correlation
PPM019152 PSS011253|
European Ancestry|
66,663 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Body Mass Index β: 0.23703 [0.22965904, 0.24440882] — R²: 0.05619 [0.05274327, 0.05973567] 0 beta = sd_trait/sd_pgs = pearson correlation
PPM019153 PSS011281|
South Asian Ancestry|
9,097 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Body Mass Index β: 0.18732 [0.16713032, 0.20750606] — R²: 0.03509 [0.02793254, 0.04305877] 0 beta = sd_trait/sd_pgs = pearson correlation
PPM019154 PSS011267|
European Ancestry|
89,976 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Body Mass Index β: 0.24564 [0.23930704, 0.25197718] — R²: 0.06032 [0.05724885, 0.06347143] 0 beta = sd_trait/sd_pgs = pearson correlation

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
PSS011214 — — 189,651 individuals — European — EB —
PSS011281 — — 9,097 individuals — South Asian — UKB —
PSS011253 — — 66,663 individuals — European — HUNT —
PSS011267 — — 89,976 individuals — European — UKB —
PSS011237 — — 33,146 individuals — South Asian — G&H —