PGS Publication: PGP000110

Publication Information (EuropePMC)
Title Genomic Risk Score impact on susceptibility to systemic sclerosis.
PubMed ID 33004331(Europe PMC)
doi 10.1136/annrheumdis-2020-218558
Publication Date Oct. 1, 2020
Journal Ann Rheum Dis
Author(s) Bossini-Castillo L, Villanueva-Martin G, Kerick M, Acosta-Herrera M, López-Isac E, Simeón CP, Ortego-Centeno N, Assassi S, International SSc Group, Australian Scleroderma Interest Group (ASIG), PRECISESADS Clinical Consortium, PRECISESADS Flow Cytometry study group, Hunzelmann N, Gabrielli A, de Vries-Bouwstra JK, Allanore Y, Fonseca C, Denton CP, Radstake TR, Alarcón-Riquelme ME, Beretta L, Mayes MD, Martin J.
Released in PGS Catalog: Nov. 20, 2020

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000341
(GRS33_SSc)
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Systemic sclerosis systemic scleroderma 33
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000341/ScoringFiles/PGS000341.txt.gz

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)
Evaluated Score 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
PPM000970 PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis AUROC: 0.787 [0.73, 0.84] Systemic sclerosis status, age and immune cell counts of: memory B cells, resting NK cells, M0 macrophages and activated dendritic cells *Some overlap with score development and testing samples
PPM000969 PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis AUROC: 0.722 Systemic sclerosis status and immune cell counts of: memory B cells, resting NK cells, M0 macrophages and activated dendritic cells *Some overlap with score development and testing samples
PPM000968 PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis AUROC: 0.644 *Some overlap with score development and testing samples

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
PSS000489 The diagnosttic criteria for each disease was based on gold-standard clinical guidelines. 339 individuals European
(Spanish)
PRECISESADS