Evidence map›Paper›PMID 40813447›Full record

ArticleJournal of human genetics2025

Analyzing complex traits and diseases using GxE PRS: genotype-environment interaction in polygenic risk score models.

Dovini Jayasinghe, Vu Viet Hoang Pham, Kerri Beckmann, Beben Benyamin, S Hong Lee

Abstract read
In one paragraph

Article in Journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Methods for modeling gene-environment interplay using polygenic risk scores.Statistical applications in genetics and molecular biology · 2026
    Review
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

5 authors.

Dovini JayasingheAustralian Centre for Precision Health, University of South Australia, Adelaide, SA, 5000, Australia. dovini.jayasinghe@mymail.unisa.edu.au.ORCID http://orcid.org/0000-0001-5685-3967
Vu Viet Hoang PhamMedicine & Health, University of New South Wales, Sydney, NSW, 2052, Australia.
Kerri BeckmannUniSA Allied Health and Human Performance, University of South Australia, Adelaide, SA, 5000, Australia.
Beben BenyaminAustralian Centre for Precision Health, University of South Australia, Adelaide, SA, 5000, Australia.
S Hong LeeAustralian Centre for Precision Health, University of South Australia, Adelaide, SA, 5000, Australia. hong.lee@unisa.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A deeper understanding of how environmental factors influence genetic risks is crucial for exploring their combined effects on health outcomes. This can be effectively achieved by incorporating genotype-environment (GxE) interactions in polygenic risk score (PRS) models. We applied our recently developed GxEprs model to a wide range of obesity-related complex traits and diseases, leveraging data from the UK Biobank, to capture significant GxE signals. This work represents the first application of the "GxEprs" method, designed to minimize issues with spurious GxE signals and model misspecification. We identified significant GxE signals especially in quantitative phenotypes such as body mass index (BMI), waist-to-hip ratio (WHR), body fat percentage (BF) and waist circumference (WC) and our results indicated a significant enhancement in prediction accuracy in most traits, highlighting the importance of the GxE component. This study demonstrated the potential of incorporating GxE interactions in PRS models, offering a broad understanding of genetic risks and laying foundation in applying these insights in personalized medicine.

Indexed as

Gene-Environment InteractionGenetic Predisposition to DiseaseModels, GeneticMultifactorial InheritanceObesityBody Mass IndexFemaleGenetic Risk ScoreGenome-Wide Association StudyGenotypeHumansMalePhenotypePolymorphism, Single NucleotideRisk FactorsWaist-Hip Ratio

Identifiers

PMID40813447
PMCPMC12552121

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LicenceCC BY
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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 OpenQuestion graph.