Polygenic Score (PGS) ID: PGS003575

Predicted Trait
Reported Trait Mosaic loss of chromosome Y
Mapped Trait(s) mosaic loss of chromosome Y measurement (EFO_0007783)
Released in PGS Catalog: April 12, 2023
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Score Details

Score Construction
PGS Name mloy-PRS
Development Method
Name Genome-wide significant variants
Parameters MAF < 0.01, R2 < 0.3
Variants
Original Genome Build GRCh38
Number of Variants 114
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000460
Citation (link to publication) García-González P et al. Int J Mol Sci (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
205,011 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: 31748747
 205,011 individuals,
100.0 % Male samples
 European UKB

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
PPM018177 PSS010945|
European Ancestry|
2,286 individuals
 PGP000460 |
García-González P et al. Int J Mol Sci (2023)
 Reported Trait: Mosaic loss of chromosome Y in male aged 65-85 OR: 1.8 (1.07) — — — —
PPM018178 PSS010945|
European Ancestry|
2,286 individuals
 PGP000460 |
García-González P et al. Int J Mol Sci (2023)
 Reported Trait: MCI-to-dementia progression in males HR: 1.11 (0.06) — — APOE genotype, age, and cohort ascertainment —
PPM018179 PSS010945|
European Ancestry|
2,286 individuals
 PGP000460 |
García-González P et al. Int J Mol Sci (2023)
 Reported Trait: MCI-to-AD progression in males HR: 1.23 (0.08) — — APOE genotype, age, and cohort ascertainment —

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
PSS010945 — — 2,286 individuals — European — NR GR@ACE-DEGESCO