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)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
Greater Middle Eastern
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
Scoring File (FTP Link)
PGP000269 |
Khan A et al. Nat Med (2022)
Chronic kidney disease (stage 3 or greater) chronic kidney disease 471,316

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
PPM020420 PGS002237
Multi-ancestry (including European)|
1,144 individuals
PGP000552 |
Mantovani A et al. Aliment Pharmacol Ther (2023)
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
Multi-ancestry (including European)|
144 individuals
PGP000552 |
Mantovani A et al. Aliment Pharmacol Ther (2023)
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
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