Evidence map›Paper›PMID 25436857›Full record

ArticleNature genetics2015

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins.

Alfonso Buil, Andrew Anand Brown, Tuuli Lappalainen, Ana Viñuela, Matthew N Davies, Hou-Feng Zheng, J Brent Richards, Daniel Glass, Kerrin S Small, Richard Durbin and 2 more

Open access · greenAbstract readTwin Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
134citing papers in PubMed, 7 pooled it
10.5field-weighted citation impact, top 1% of its field
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

134 citing papers in PubMed, 7 syntheses or guidelines pooled it, 243 citations in OpenAlex.

  1. Pooled it
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  17. Genetic regulation of fatty acid content in adipose tissue.American journal of human genetics · 2026
    Article
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74 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 3 countries.

Alfonso Buil1] Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. [2] Institute of Genetics and Genomics in Geneva, University of Geneva, Geneva, Switzerland. [3] Swiss Institute of Bioinformatics, Geneva, Switzerland.
Andrew Anand Brown1] Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK. [2] NORMENT, KG Jebsen Center for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Tuuli Lappalainen1] Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. [2] Institute of Genetics and Genomics in Geneva, University of Geneva, Geneva, Switzerland. [3] Swiss Institute of Bioinformatics, Geneva, Switzerland. [4] Department of Genetics, Stanford University, Stanford, California, USA.
Ana ViñuelaDepartment of Twin Research, King's College London, London, UK.ORCID 0000000337718537
Matthew N DaviesDepartment of Twin Research, King's College London, London, UK.
Hou-Feng Zheng1] Department of Medicine, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [3] Department of Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada.
J Brent Richards1] Department of Twin Research, King's College London, London, UK. [2] Department of Medicine, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada.
Daniel GlassDepartment of Twin Research, King's College London, London, UK.
Kerrin S SmallDepartment of Twin Research, King's College London, London, UK.
Richard DurbinHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.
Timothy D SpectorDepartment of Twin Research, King's College London, London, UK.
Emmanouil T Dermitzakis1] Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. [2] Institute of Genetics and Genomics in Geneva, University of Geneva, Geneva, Switzerland. [3] Swiss Institute of Bioinformatics, Geneva, Switzerland.
King's College London · GBUniversity of Geneva · CHMcGill University · CAWellcome Sanger Institute · GB

Funding

Wellcome Trust 098051
6 · The paper itself

Abstract

Understanding the genetic architecture of gene expression is an intermediate step in understanding the genetic architecture of complex diseases. RNA sequencing technologies have improved the quantification of gene expression and allow measurement of allele-specific expression (ASE). ASE is hypothesized to result from the direct effect of cis regulatory variants, but a proper estimation of the causes of ASE has not been performed thus far. In this study, we take advantage of a sample of twins to measure the relative contributions of genetic and environmental effects to ASE, and we find substantial effects from gene × gene (G×G) and gene × environment (G×E) interactions. We propose a model where ASE requires genetic variability in cis, a difference in the sequence of both alleles, but where the magnitude of the ASE effect depends on trans genetic and environmental factors that interact with the cis genetic variants.

Indexed as

Gene-Environment InteractionSequence Analysis, RNATranscriptomeAllelesBase SequenceEpistasis, GeneticFemaleGene Expression ProfilingGene Expression RegulationGene FrequencyGenetic VariationHaplotypesHumansModels, GeneticMolecular Sequence DataPolymorphism, Single NucleotideRNA, Messenger

Identifiers

PMID25436857
PMCPMC4643454
OpenAlexW2066293229

What OpenQuestion holds

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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.