Evidence map›Paper›PMID 31924771›Full record

ArticleNature communications2020

A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome.

Tom G Richardson, Gibran Hemani, Tom R Gaunt, Caroline L Relton, George Davey Smith

Abstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 2 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

56 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  14. Uncovering the Role ofJournal of Cancer · 2025
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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

5 authors.

Tom G RichardsonMRC Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK. Tom.G.Richardson@bristol.ac.uk.ORCID http://orcid.org/0000-0002-7918-2040
Gibran HemaniMRC Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK.ORCID http://orcid.org/0000-0003-0920-1055
Tom R GauntMRC Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK.ORCID http://orcid.org/0000-0003-0924-3247
Caroline L ReltonMRC Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK.
George Davey SmithMRC Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK.ORCID http://orcid.org/0000-0002-1407-8314

Funding

Medical Research Council MC_UU_00011/4Medical Research Council MC_UU_00011/5Medical Research Council MC_UU_12013/2Medical Research Council MR/S003886/1RCUK | Medical Research Council (MRC) MC_UU_00011/1RCUK | MRC | Medical Research Foundation MC_UU_00011/4RCUK | MRC | Medical Research Foundation MC_UU_00011/5Wellcome TrustWellcome Trust (Wellcome) 208806/Z/17/Z
6 · The paper itself

Abstract

Developing insight into tissue-specific transcriptional mechanisms can help improve our understanding of how genetic variants exert their effects on complex traits and disease. In this study, we apply the principles of Mendelian randomization to systematically evaluate transcriptome-wide associations between gene expression (across 48 different tissue types) and 395 complex traits. Our findings indicate that variants which influence gene expression levels in multiple tissues are more likely to influence multiple complex traits. Moreover, detailed investigations of our results highlight tissue-specific associations, drug validation opportunities, insight into the likely causal pathways for trait-associated variants and also implicate putative associations at loci yet to be implicated in disease susceptibility. Similar evaluations can be conducted at http://mrcieu.mrsoftware.org/Tissue_MR_atlas/.

Indexed as

Mendelian Randomization AnalysisPhenomicsTranscriptomeAromataseFibrillin-2Gene Expression RegulationGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationHumansHydroxymethylglutaryl CoA ReductasesMultifactorial InheritancePhenotypePolymorphism, Single NucleotideQuantitative Trait LociRibosomal ProteinsAromataseCYP19A1 protein, humanFBN2 protein, humanFibrillin-2HMGCR protein, humanHydroxymethylglutaryl CoA ReductasesRibosomal ProteinsRPS26 protein, human

Identifiers

PMID31924771
PMCPMC6954187

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.