PGS Catalog - PGS001553 / Volume of grey matter in Crus I Cerebellum (R) (Polygenic Score)

Polygenic Score (PGS) ID: PGS001553

Predicted Trait
Reported Trait	Volume of grey matter in Crus I Cerebellum (R)
Mapped Trait(s)	neuroimaging measurement (EFO_0004346) grey matter volume measurement (EFO_0005420)
Additional Trait Information	https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI25902

Released in PGS Catalog: Nov. 25, 2021

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Score Details

Score Construction
PGS Name	GBE_INI25902
Development Method
Name	snpnet
Parameters	NR
Variants
Original Genome Build	GRCh37
Number of Variants	2,371
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% 22,320 individuals (100%)
PGS Evaluation	European: 40% African: 20% East Asian: 20% South Asian: 20% 5 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
—	22,320 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
PPM006935	PSS006781\| African Ancestry\| 200 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Vol. of grey matter in Crus I Cerebellum (R)	—	—	R²: 0.08902 [0.07581, 0.10223] Incremental R2 (full-covars): -0.04691 PGS R2 (no covariates): 0.01964 [0.01296, 0.02632]	age, sex, UKB array type, Genotype PCs	—
PPM006936	PSS006782\| East Asian Ancestry\| 113 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Vol. of grey matter in Crus I Cerebellum (R)	—	—	R²: 0.13064 [0.10086, 0.16041] Incremental R2 (full-covars): -0.00239 PGS R2 (no covariates): 0.01555 [0.00391, 0.02718]	age, sex, UKB array type, Genotype PCs	—
PPM006937	PSS006783\| European Ancestry\| 1,739 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Vol. of grey matter in Crus I Cerebellum (R)	—	—	R²: 0.2468 [0.2375, 0.25609] Incremental R2 (full-covars): 0.04314 PGS R2 (no covariates): 0.04707 [0.04194, 0.05221]	age, sex, UKB array type, Genotype PCs	—
PPM006938	PSS006784\| South Asian Ancestry\| 329 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Vol. of grey matter in Crus I Cerebellum (R)	—	—	R²: 0.23911 [0.22264, 0.25559] Incremental R2 (full-covars): 0.00134 PGS R2 (no covariates): 0.00988 [0.00552, 0.01424]	age, sex, UKB array type, Genotype PCs	—
PPM006939	PSS006785\| European Ancestry\| 5,443 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Vol. of grey matter in Crus I Cerebellum (R)	—	—	R²: 0.19792 [0.19254, 0.20331] Incremental R2 (full-covars): 0.04351 PGS R2 (no covariates): 0.04429 [0.04125, 0.04733]	age, sex, UKB array type, Genotype 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
PSS006781	—	—	200 individuals	—	African unspecified	—	UKB	—
PSS006782	—	—	113 individuals	—	East Asian	—	UKB	—
PSS006783	—	—	1,739 individuals	—	European	non-white British ancestry	UKB	—
PSS006784	—	—	329 individuals	—	South Asian	—	UKB	—
PSS006785	—	—	5,443 individuals	—	European	white British ancestry	UKB	Testing cohort (heldout set)