PGS Publication: PGP000552

Publication Information (EuropePMC)
Title Adverse effect of PNPLA3 p.I148M genetic variant on kidney function in middle-aged individuals with metabolic dysfunction.
PubMed ID 36947711(Europe PMC)
doi 10.1111/apt.17477
Publication Date March 22, 2023
Journal Aliment Pharmacol Ther
Author(s) Mantovani A, Pelusi S, Margarita S, Malvestiti F, Dell'Alma M, Bianco C, Ronzoni L, Prati D, Targher G, Valenti L.
Released in PGS Catalog: Jan. 11, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS002237
(GPS_CKD)
 PGP000269 |
Khan A et al. Nat Med (2022)
 Chronic kidney disease (stage 3 or greater) chronic kidney disease 471,316
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002237/ScoringFiles/PGS002237.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
PPM020420 PGS002237
(GPS_CKD)
 PSS011354|
Multi-ancestry (including European)|
1,144 individuals
 PGP000552 |
Mantovani A et al. Aliment Pharmacol Ther (2023)
|Ext.		 Reported Trait: Estimated glomerular filtration rate β: -10.0 (1.32) — — sex, age, height, waist circumference, systolic blood pressure, ALT aminotransferase, Fasting insulin, albuminuria, LDL-cholesterol, lipid-lowering treatment, ethnicity, PNPLA3 rs738409 p.I148M —
PPM020421 PGS002237
(GPS_CKD)
 PSS011355|
Multi-ancestry (including European)|
144 individuals
 PGP000552 |
Mantovani A et al. Aliment Pharmacol Ther (2023)
|Ext.		 Reported Trait: Estimated glomerular filtration rate β: -8.1 (4.23) — — sex, height, systolic blood pressure, LDL-cholesterol, ALT aminotransferase, albuminuria, PNPLA3 rs738409 p.I148M —

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
PSS011354 — — 1,144 individuals,
36.5 % Male samples
 Mean = 54.0 years
Sd = 6.0 years		 European, Not reported European (>90%), Not reported NR Liver-Bible-2022
PSS011355 — Median = 17.0 months 144 individuals — European, Not reported European, Not reported NR Liver-Bible-2022