Evidence map›Paper›PMID 30323177›Full record

ArticleNature genetics2018

Identifying loci affecting trait variability and detecting interactions in genome-wide association studies.

Alexander I Young, Fabian L Wauthier, Peter Donnelly

Abstract read
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In one paragraph

Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed, 1 pooled it
–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

55 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  8. Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025
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  16. Task-Agnostic Machine-Learning-Assisted Inference.Advances in neural information processing systems · 2024
    Article
  17. Causal interpretations of family GWAS in the presence of heterogeneous effects.Proceedings of the National Academy of Sciences of the United States of America · 2024
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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

3 authors.

Alexander I YoungWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. alexander.young@bdi.ox.ac.uk.
Fabian L WauthierWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Peter DonnellyWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. donnelly@well.ox.ac.uk.ORCID http://orcid.org/0000-0001-9495-3408

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Identification of genetic variants with effects on trait variability can provide insights into the biological mechanisms that control variation and can identify potential interactions. We propose a two-degree-of-freedom test for jointly testing mean and variance effects to identify such variants. We implement the test in a linear mixed model, for which we provide an efficient algorithm and software. To focus on biologically interesting settings, we develop a test for dispersion effects, that is, variance effects not driven solely by mean effects when the trait distribution is non-normal. We apply our approach to body mass index in the subsample of the UK Biobank population with British ancestry (n ~408,000) and show that our approach can increase the power to detect associated loci. We identify and replicate novel associations with significant variance effects that cannot be explained by the non-normality of body mass index, and we provide suggestive evidence for a connection between leptin levels and body mass index variability.

Indexed as

Epistasis, GeneticGene-Environment InteractionQuantitative Trait LociBiological Specimen BanksBody CompositionBody Mass IndexBody Weights and MeasuresFemaleGenetic LociGenetic VariationGenome-Wide Association StudyHumansMaleModels, GeneticObserver VariationPhenotype

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.