Polygenic Score (PGS) ID: PGS003124

Predicted Trait
Reported Trait Thinness
Mapped Trait(s) body mass index (EFO_0004340)
Additional Trait Information Body mass index (<=18, thin low BMI; 19~30, control, normal BMI); Binary
Released in PGS Catalog: Nov. 23, 2022
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Score Details

Score Construction
PGS Name ExPRSweb_Thinness_STILTS-UKHLS_LASSOSUM_MGI_20211120
Development Method
Name lassosum
Parameters Lassosum 0.4.4 (MAF >= 1%; autosomal variants only)s=1;Lambda=0.02336
Variants
Original Genome Build GRCh37
Number of Variants 224,595
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000393
Citation (link to publication) Ma Y et al. Am J Hum Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
9,203 individuals (100%)
Score Development/Training
European: 100%
21,345 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 30677029
[
  • 2,460 cases
  • , 6,743 controls
]
 European UKHLS
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
—
[
  • 363 cases
  • , 20,982 controls
]
 European MGI Body mass index (<19, thin low BMI; 19~40, control, normal BMI); Binary — — — —

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
PPM016049 PSS010017|
European Ancestry|
21,346 individuals
 PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
 Reported Trait: Thinness OR: 1.096 [0.989, 1.215]
β: 0.0919 (0.0523)		 AUROC: 0.525 [0.493, 0.556] — SEX,AGE,Batch,PC1,PC2,PC3,PC4 —

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
PSS010017 Body mass index (<19, thin low BMI; 19~40, control, normal BMI); Binary —
[
  • 390 cases
  • , 20,956 controls
]
 — European — MGI —