Polygenic Score (PGS) ID: PGS000809

Predicted Trait
Reported Trait Multiple sclerosis
Mapped Trait(s) multiple sclerosis (MONDO_0005301)
Released in PGS Catalog: July 2, 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 PRS127_MS
Development Method
Name Clumping of variants associated with multiple sclerosis
Parameters P < 1e-3 , r^2 = 0.25 within a 200kb region.
Variants
Original Genome Build NR
Number of Variants 127
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000194
Citation (link to publication) Barnes CLK et al. Eur J Hum Genet (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
75,982 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST001198
Europe PMC: 21833088
 26,621 individuals European 14 cohorts
  • B58C
  • ,CAHRES
  • ,CHOP
  • ,EGEA
  • ,GAS
  • ,GENMETS
  • ,HYPERGENES
  • ,IMSGC
  • ,KORA
  • ,MG_GWAS
  • ,NBBS
  • ,POPGEN
  • ,PROCARDIS
  • ,WTCCC
GWAS Catalog: GCST000263
Europe PMC: 18997785
 240 individuals European NR
GWAS Catalog: GCST001341
Europe PMC: 22190364
 17,698 individuals European 8 cohorts
  • ANZgene
  • ,BWH
  • ,BayerScheringPharma
  • ,Gene_MSA_CH
  • ,Gene_MSA_NL
  • ,Gene_MSA_US
  • ,IMSGC_UK
  • ,IMSGC_US
GWAS Catalog: GCST000424
Europe PMC: 19525953
 9,844 individuals European 6 cohorts
  • BWH
  • ,Gene_MSA_CH
  • ,Gene_MSA_NL
  • ,Gene_MSA_US
  • ,IMSGC_UK
  • ,IMSGC_US
GWAS Catalog: GCST000680
Europe PMC: 20453840
 1,754 individuals European
(Italy)		 NR
GWAS Catalog: GCST001505
Europe PMC: 22570697
 6,685 individuals European 6 cohorts
  • Gene_MSA_CH
  • ,Gene_MSA_NL
  • ,Gene_MSA_US
  • ,IMSGC_UK
  • ,IMSGC_US
  • ,WTCCC
GWAS Catalog: GCST001096
Europe PMC: 21654844
 1,470 individuals European BWH, IMSGC_UK, IMSGC_US
GWAS Catalog: GCST000425
Europe PMC: 19525955
 5,031 individuals European B58C, Illumina_iControlDB
GWAS Catalog: GCST000062
Europe PMC: 17660530
 5,224 individuals European BWH
GWAS Catalog: GCST000716
Europe PMC: 20598377
 1,415 individuals European NR

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
PPM002137 PSS001050|
European Ancestry|
725 individuals
 PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple sclerosis β: 0.6 AUROC: 0.705 (0.029) R²: 0.07 Age, sex, PCs(1-2) —
PPM002138 PSS001051|
European Ancestry|
656 individuals
 PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple sclerosis β: 0.59 AUROC: 0.762 (0.055) R²: 0.075 Age, sex, PCs(1-2) —
PPM002139 PSS001049|
European Ancestry|
8,370 individuals
 PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple Sclerosis β: 0.63 AUROC: 0.765 (0.042) R²: 0.069 Age, sex, PCs(1-2) —

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
PSS001049 Cases are individuals with multiple sclerosis. —
[
  • 29 cases
  • , 8,341 controls
]
 — European Mainland Scotland GS:SFHS —
PSS001050 Cases are individuals with multiple sclerosis. —
[
  • 80 cases
  • , 645 controls
]
 — European Orkney ORCADES —
PSS001051 Cases are individuals with multiple sclerosis. —
[
  • 14 cases
  • , 642 controls
]
 — European Shetlands VIKING —