PGS Publication: PGP000342

Publication Information (EuropePMC)
Title Contribution of rare variants in monogenic diabetes-genes to early-onset type 2 diabetes.
PubMed ID 35487478(Europe PMC)
doi 10.1016/j.diabet.2022.101353
Publication Date April 26, 2022
Journal Diabetes Metab
Author(s) Pezzilli S, Tohidirad M, Biagini T, Scarale MG, Alberico F, Mercuri L, Mannino GC, Garofolo M, Filardi T, Tang Y, Giuffrida F, Mendonca C, Andreozzi F, Baroni MG, Buzzetti R, Cavallo MG, Cossu E, D'Angelo P, De Cosmo S, Lamacchia O, Leonetti F, Morano S, Morviducci L, Penno G, Pozzilli P, Pugliese G, Sesti G, Mazza T, Doria A, Trischitta V, Prudente S.
Released in PGS Catalog: July 21, 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)
PGS002733
(GRS17_T2D)
PGP000342 |
Pezzilli S et al. Diabetes Metab (2022)
Type 2 diabetes type 2 diabetes mellitus 17
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002733/ScoringFiles/PGS002733.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
PPM014821 PGS002733
(GRS17_T2D)
PSS009902|
European Ancestry|
600 individuals
PGP000342 |
Pezzilli S et al. Diabetes Metab (2022)
Reported Trait: Early-onset type 2 diabetes OR: 1.09 [1.01, 1.18]
PPM014822 PGS002733
(GRS17_T2D)
PSS009902|
European Ancestry|
600 individuals
PGP000342 |
Pezzilli S et al. Diabetes Metab (2022)
Reported Trait: Early-onset type 2 diabetes in rare variant carriers OR: 1.45 [1.15, 1.57]
PPM014823 PGS002733
(GRS17_T2D)
PSS009902|
European Ancestry|
600 individuals
PGP000342 |
Pezzilli S et al. Diabetes Metab (2022)
Reported Trait: Early-onset type 2 diabetes in rare variant non-carriers OR: 1.06 [1.01, 1.13]

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
PSS009902
[
  • 300 cases
  • , 300 controls
]
European
(Italian)
NR