Evidence mapPaperPMID 39858580Full record

ArticleGenes2024

Development of a Polygenic Risk Score for Metabolic Dysfunction-Associated Steatotic Liver Disease Prediction in UK Biobank.

Panagiota Giardoglou, Ioanna Gavra, Athina I Amanatidou, Ioanna Panagiota Kalafati, Panagiotis Symianakis, Maria Kafyra, Panagiotis Moulos, George V Dedoussis

Abstract read
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Panagiota GiardoglouDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.
Ioanna GavraDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.ORCID 0000-0002-3803-9168
Athina I AmanatidouDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.ORCID 0000-0002-7303-5664
Ioanna Panagiota KalafatiDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.ORCID 0000-0001-5572-7491
Panagiotis SymianakisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.ORCID 0009-0002-8813-5075
Maria KafyraDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.ORCID 0009-0005-9665-0829
Panagiotis MoulosInstitute for Fundamental Biomedical Research, Biomedical Sciences Research Center 'Alexander Fleming', 16672 Vari, Greece.ORCID 0000-0002-4199-0333
George V DedoussisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.ORCID 0000-0002-7798-6221

Funding

General Secretariat for Research and Innovation T2EDK-03044
6 · The paper itself

Abstract

backgroundMetabolic dysfunction-associated steatotic liver disease (MASLD) is the leading cause of liver-related morbidity and mortality. Although the invasive liver biopsy remains the golden standard for MASLD diagnosis, Magnetic Resonance Imaging-derived Proton Density Fat Fraction (MRI-PDFF) is an accurate, non-invasive method for the assessment of treatment response. This study aimed at developing a Polygenic Risk Score (PRS) to improve MRI-PDFF prediction using UK Biobank data to assess an individual's genetic liability to MASLD.

methodsWe iteratively sequestered 10% of MRI-PDFF samples as a validation set and split the rest of each dataset into base and target partitions, containing GWAS summary statistics and raw genotype data, respectively. PRSice2 was deployed to derive PRS candidates. Based on the frequency of SNP appearances along the PRS candidates, we generated different SNP sets according to variable frequency cutoffs. By applying the PRSs to the validation set, we identified the optimal SNP set, which was then applied to a Greek nonalcoholic fatty liver disease (NAFLD) study.

resultsData from 3553 UK Biobank participants yielded 49 different SNP sets. After calculating the PRS on the validation set for every SNP set, an optimal PRS with 75 SNPs was selected (incremental R

conclusionsOur findings provide strong evidence that PRS is a powerful prediction model for MASLD, while it can also be applied on populations of different ethnicity.

Indexed as

Fatty LiverMultifactorial InheritanceNon-alcoholic Fatty Liver DiseaseAgedBiological Specimen BanksFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHumansMagnetic Resonance ImagingMaleMiddle AgedPolymorphism, Single NucleotideRisk FactorsUK Biobankmetabolic dysfunction-associated steatotic liver diseasepolygenic risk scoreUK Biobank

Identifiers

PMID39858580
PMCPMC11765347

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.