Evidence map›Paper›PMID 27918533›Full record

ArticleNature genetics2017

Identification of context-dependent expression quantitative trait loci in whole blood.

Daria V Zhernakova, Patrick Deelen, Martijn Vermaat, Maarten van Iterson, Michiel van Galen, Wibowo Arindrarto, Peter van 't Hof, Hailiang Mei, Freerk van Dijk, Harm-Jan Westra and 37 more

Open access · bronzeAbstract read
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In one paragraph

Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 253 papers, 19 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
253citing papers in PubMed, 19 pooled it
19.9field-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

253 citing papers in PubMed, 19 syntheses or guidelines pooled it, 513 citations in OpenAlex.

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  2. Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.Annals of oncology : official journal of the European Society for Medical Oncology · 2024
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  4. Integration ofFrontiers in immunology · 2023
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  16. Epigenome-wide meta-analysis of DNA methylation and childhood asthma.The Journal of allergy and clinical immunology · 2019
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193 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

47 authors at 8 institutions in 2 countries.

Daria V ZhernakovaUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Patrick DeelenUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.ORCID 0000-0002-5654-3966
Martijn VermaatDepartment of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Maarten van ItersonMolecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands.
Michiel van GalenDepartment of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Wibowo ArindrartoSequence Analysis Support Core, Leiden University Medical Center, Leiden, the Netherlands.
Peter van 't HofSequence Analysis Support Core, Leiden University Medical Center, Leiden, the Netherlands.
Hailiang MeiSequence Analysis Support Core, Leiden University Medical Center, Leiden, the Netherlands.
Freerk van DijkUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Harm-Jan WestraDivisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Marc Jan BonderUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Jeroen van RooijDepartment of Internal Medicine, ErasmusMC, Rotterdam, the Netherlands.
Marijn VerkerkDepartment of Internal Medicine, ErasmusMC, Rotterdam, the Netherlands.
P Mila JhamaiDepartment of Internal Medicine, ErasmusMC, Rotterdam, the Netherlands.
Matthijs MoedMolecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands.
Szymon M KielbasaMolecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands.
Jan BotSURFsara, Amsterdam, the Netherlands.
Irene NoorenSURFsara, Amsterdam, the Netherlands.
René PoolDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.
Jenny van DongenDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.
Jouke J HottengaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.
Coen D A StehouwerDepartment of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.
Carla J H van der KallenDepartment of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.
Casper G SchalkwijkDepartment of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.
Alexandra ZhernakovaUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Yang LiUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Ettje F TigchelaarUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Niek de KleinUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Marian BeekmanMolecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands.
Joris DeelenMolecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands.
Diana van HeemstDepartment of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, the Netherlands.
Leonard H van den BergDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Albert HofmanDepartment of Epidemiology, ErasmusMC, Rotterdam, the Netherlands.
André G UitterlindenDepartment of Internal Medicine, ErasmusMC, Rotterdam, the Netherlands.
Marleen M J van GreevenbroekDepartment of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.
Jan H VeldinkDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Dorret I BoomsmaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.
Cornelia M van DuijnGenetic Epidemiology Unit, Department of Epidemiology, ErasmusMC, Rotterdam, the Netherlands.
Cisca WijmengaUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
P Eline SlagboomMolecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands.
Morris A SwertzUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Aaron IsaacsSchool for Cardiovascular Diseases (CARIM), Maastricht University Medical Center, Maastricht, the Netherlands.
Joyce B J van MeursDepartment of Internal Medicine, ErasmusMC, Rotterdam, the Netherlands.
Rick JansenDepartment of Psychiatry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.
Bastiaan T HeijmansMolecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, the Netherlands.
Peter A C 't HoenDepartment of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Lude FrankeUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, the Netherlands.
Leiden University Medical Center · NLUniversity Medical Center Groningen · NLErasmus MC · NLAmsterdam Neuroscience · NLMaastricht University · NLSURFsara (Netherlands) · NLUniversity Medical Center Utrecht · NLBroad Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic risk factors often localize to noncoding regions of the genome with unknown effects on disease etiology. Expression quantitative trait loci (eQTLs) help to explain the regulatory mechanisms underlying these genetic associations. Knowledge of the context that determines the nature and strength of eQTLs may help identify cell types relevant to pathophysiology and the regulatory networks underlying disease. Here we generated peripheral blood RNA-seq data from 2,116 unrelated individuals and systematically identified context-dependent eQTLs using a hypothesis-free strategy that does not require previous knowledge of the identity of the modifiers. Of the 23,060 significant cis-regulated genes (false discovery rate (FDR) ≤ 0.05), 2,743 (12%) showed context-dependent eQTL effects. The majority of these effects were influenced by cell type composition. A set of 145 cis-eQTLs depended on type I interferon signaling. Others were modulated by specific transcription factors binding to the eQTL SNPs.

Indexed as

Genetic Predisposition to DiseaseBlood ProteinsCell LineageCohort StudiesFemaleGene Expression ProfilingHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPolymorphism, Single NucleotideQuantitative Trait LociRegulatory Sequences, Nucleic AcidRNA, MessengerBlood ProteinsRNA, Messenger

Identifiers

PMID27918533
OpenAlexW2560048039

What OpenQuestion holds

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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.