PGS Publication: PGP000407

Publication Information (EuropePMC)
Title Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
PubMed ID 36357634(Europe PMC)
doi 10.1007/s00467-022-05789-7
Publication Date Nov. 10, 2022
Journal Pediatr Nephrol
Author(s) Downie ML, Gupta S, Chan MMY, Sadeghi-Alavijeh O, Cao J, Parekh RS, Diz CB, Bierzynska A, Levine AP, Pepper RJ, Stanescu H, Saleem MA, Kleta R, Bockenhauer D, Koziell AB, Gale DP.
Released in PGS Catalog: Dec. 20, 2022

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
Scoring File (FTP Link)
PGP000407 |
Downie ML et al. Pediatr Nephrol (2022)
Childhood steroid-sensitive nephrotic syndrome nephrotic syndrome 5

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM016206 PGS003354
European Ancestry|
597 individuals
PGP000407 |
Downie ML et al. Pediatr Nephrol (2022)
Reported Trait: Non-monogenic idiopathic nephrotic syndrome AUROC: 0.638 [0.543, 0.733]

Evaluated Samples

PGS Sample Set 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
PSS010057 597 individuals European NR BRIDGE