Evidence map›Paper›PMID 42263682›Full record

ArticleCell genomics2026

Separating direct, indirect, and parent-of-origin genetic effects in the human population.

Ilse Krätschmer, Laura Hegemann, Robin J Hofmeister, Elizabeth C Corfield, Mahdi Mahmoudi, Olivier Delaneau, Ole A Andreassen, Archie Campbell, Caroline Hayward, Estonian Biobank Research Team and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

Ilse KrätschmerInstitute of Science and Technology Austria, Klosterneuburg, Austria. Electronic address: ilse.kraetschmer@ist.ac.at.
Laura HegemannPsychGen Center for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway; Nic Waals Institute, Lovisenberg Diakonale Hospital, Oslo, Norway; Department of Psychology, University of Oslo, Oslo, Norway.
Robin J HofmeisterDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.
Elizabeth C CorfieldPsychGen Center for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway; Nic Waals Institute, Lovisenberg Diakonale Hospital, Oslo, Norway; Department of Psychology, University of Oslo, Oslo, Norway.
Mahdi MahmoudiFaculty of Medicine, Sigmund Freud University, Vienna, Austria.
Olivier DelaneauDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.
Ole A AndreassenUniversity of Oslo, Oslo University Hospital, Oslo, Norway.
Archie CampbellMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Caroline HaywardCentre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Estonian Biobank Research TeamEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Riccardo E MarioniCentre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Eivind YstromPsychGen Center for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway; PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway.
Alexandra HavdahlPsychGen Center for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway; Nic Waals Institute, Lovisenberg Diakonale Hospital, Oslo, Norway; PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK. Electronic address: alexandra.havdahl@fhi.no.
Matthew R RobinsonInstitute of Science and Technology Austria, Klosterneuburg, Austria. Electronic address: mrobinso@ist.ac.at.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We introduce JODIE, a genetic joint modeling approach that estimates how DNA loci influence human traits by partitioning genetic effects into four components: direct effects (from a child's alleles), indirect maternal and paternal effects (from parents' alleles), and parent-of-origin (PofO) effects (dependent on parental transmission of alleles), while uniquely accounting for assortative mating. We analyze 30,000 child-mother-father trios from the Estonian Biobank and the Norwegian Mother, Father, and Child Cohort, focusing on height, body mass index, and childhood educational test scores. We find direct effects to be the largest contributor to trait variation, but combined, indirect parental and PofO effects are similarly substantial. We support our results by within-family genome-wide association testing and identify 276 independently associated DNA regions with a complex interplay between direct, indirect, and PofO effects. By joint modeling, we show that direct, indirect, and PofO effects collectively shape human phenotypic variation across loci genome-wide.

Indexed as

Genetic LociGenetics, PopulationMaternal InheritancePaternal InheritanceAllelesChildEstoniaFemaleGenome-Wide Association StudyHumansMaleModels, GeneticNorwayParentsPhenotypePolymorphism, Single Nucleotideassortative matingDGEdirect genetic effectsEstBBIGEindirect genetic effectsMoBaparent-of-origin effectsphenotypic variationwithin-family GWAS

Identifiers

PMID42263682
PMCPMC13347940

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.