Polygenic Score (PGS) ID: PGS001642

Predicted Trait
Reported Trait Volumetric scaling from T1 head image to standard space
Mapped Trait(s)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI25000
Released in PGS Catalog: Nov. 25, 2021
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name GBE_INI25000
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 1,304
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000244
Citation (link to publication) Tanigawa Y et al. PLoS Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
22,323 individuals (100%)
PGS Evaluation
European: 50%
African: 16.7%
East Asian: 16.7%
South Asian: 16.7%
6 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
— 22,323 individuals European UKB — — — white British ancestry Training + validation cohort (train_val)

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
PPM005350 PSS005181|
African Ancestry|
200 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Volumetric scaling from T1 head image to standard space — — R²: 0.34947 [0.33077, 0.36816]
Incremental R2 (full-covars): -0.01679
PGS R2 (no covariates): 0.01727 [0.01099, 0.02355]		 age, sex, UKB array type, Genotype PCs —
PPM005351 PSS005182|
East Asian Ancestry|
113 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Volumetric scaling from T1 head image to standard space — — R²: 0.3321 [0.29562, 0.36857]
Incremental R2 (full-covars): 0.01092
PGS R2 (no covariates): 0.01319 [0.00245, 0.02392]		 age, sex, UKB array type, Genotype PCs —
PPM005352 PSS005183|
European Ancestry|
1,739 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Volumetric scaling from T1 head image to standard space — — R²: 0.44904 [0.43987, 0.45821]
Incremental R2 (full-covars): 0.02391
PGS R2 (no covariates): 0.02614 [0.02223, 0.03005]		 age, sex, UKB array type, Genotype PCs —
PPM005353 PSS005184|
South Asian Ancestry|
329 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Volumetric scaling from T1 head image to standard space — — R²: 0.39771 [0.3809, 0.41453]
Incremental R2 (full-covars): 0.01306
PGS R2 (no covariates): 0.01522 [0.00984, 0.0206]		 age, sex, UKB array type, Genotype PCs —
PPM005354 PSS005185|
European Ancestry|
5,445 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Volumetric scaling from T1 head image to standard space — — R²: 0.41669 [0.41101, 0.42238]
Incremental R2 (full-covars): 0.02811
PGS R2 (no covariates): 0.02866 [0.02617, 0.03114]		 age, sex, UKB array type, Genotype PCs —
PPM038725 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.01965 — — — —

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
PSS005181 — — 200 individuals — African unspecified — UKB —
PSS005182 — — 113 individuals — East Asian — UKB —
PSS005183 — — 1,739 individuals — European non-white British ancestry UKB —
PSS005184 — — 329 individuals — South Asian — UKB —
PSS005185 — — 5,445 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — UKB —