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)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants 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

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000970 PGS000341 (GRS33_SSc) PSS000489 PGP000110
Bossini-Castillo L et al. (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 PGP000110
Bossini-Castillo L et al. (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 PGP000110
Bossini-Castillo L et al. (2020)
Reported Trait: Systemic sclerosis AUROC: 0.644 *Some overlap with score development and testing samples

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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