Evidence map›Paper›PMID 24771767›Full record

ArticleeLife2014

Genetic interactions affecting human gene expression identified by variance association mapping.

Andrew Anand Brown, Alfonso Buil, Ana Viñuela, Tuuli Lappalainen, Hou-Feng Zheng, J Brent Richards, Kerrin S Small, Timothy D Spector, Emmanouil T Dermitzakis, Richard Durbin

Abstract read
In one paragraph

Article in eLife, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.

0numbers the graph read from it
0cells of the map it votes in
76citing 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

76 citing papers in PubMed.

  1. Article
  2. Choice of phenotype scale is critical in biobank-based G×E tests.bioRxiv : the preprint server for biology · 2026
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  19. Review
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16 more citing papers are in PubMed but not listed here.

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

10 authors.

Andrew Anand BrownHuman Genetics, Wellcome Trust Sanger Institute, Cambridge, United Kingdom NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Alfonso BuilDepartment of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva, University of Geneva Medical School, Geneva, Switzerland Swiss Institute of Bioinformatics, Geneva, Switzerland.
Ana ViñuelaDepartment of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Tuuli LappalainenDepartment of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva, University of Geneva Medical School, Geneva, Switzerland Swiss Institute of Bioinformatics, Geneva, Switzerland.
Hou-Feng ZhengDepartment of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, Canada.
J Brent RichardsDepartment of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom Department of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, Canada.
Kerrin S SmallDepartment of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Emmanouil T DermitzakisDepartment of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva, University of Geneva Medical School, Geneva, Switzerland Swiss Institute of Bioinformatics, Geneva, Switzerland.
Richard DurbinHuman Genetics, Wellcome Trust Sanger Institute, Cambridge, United Kingdom rd@sanger.ac.uk.

Funding

Wellcome Trust
6 · The paper itself

Abstract

Non-additive interaction between genetic variants, or epistasis, is a possible explanation for the gap between heritability of complex traits and the variation explained by identified genetic loci. Interactions give rise to genotype dependent variance, and therefore the identification of variance quantitative trait loci can be an intermediate step to discover both epistasis and gene by environment effects (GxE). Using RNA-sequence data from lymphoblastoid cell lines (LCLs) from the TwinsUK cohort, we identify a candidate set of 508 variance associated SNPs. Exploiting the twin design we show that GxE plays a role in ∼70% of these associations. Further investigation of these loci reveals 57 epistatic interactions that replicated in a smaller dataset, explaining on average 4.3% of phenotypic variance. In 24 cases, more variance is explained by the interaction than their additive contributions. Using molecular phenotypes in this way may provide a route to uncovering genetic interactions underlying more complex traits.DOI: http://dx.doi.org/10.7554/eLife.01381.001.

Indexed as

Epistasis, GeneticMultifactorial InheritanceQuantitative Trait, HeritableBiostatisticsHumansepistasisgene-environment interactionsgene expression

Identifiers

PMID24771767
PMCPMC4017648

What OpenQuestion holds

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LicenceCC BY
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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.