Evidence map›Paper›PMID 25174004›Full record

ArticleNature neuroscience2014

Genetic variability in the regulation of gene expression in ten regions of the human brain.

Adaikalavan Ramasamy, Daniah Trabzuni, Sebastian Guelfi, Vibin Varghese, Colin Smith, Robert Walker, Tisham De, UK Brain Expression Consortium, North American Brain Expression Consortium, Lachlan Coin and 6 more

Open access · greenAbstract read
In one paragraph

Article in Nature neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 429 papers, 18 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
429citing papers in PubMed, 18 pooled it
46.0field-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

429 citing papers in PubMed, 18 syntheses or guidelines pooled it, 703 citations in OpenAlex.

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  5. Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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369 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

16 authors at 7 institutions in 4 countries.

Adaikalavan Ramasamy *Department of Medical & Molecular Genetics, King's College London, Guy's Hospital, London, UK.
Daniah Trabzuni *Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Sebastian Guelfi *Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Vibin VargheseDepartment of Medical & Molecular Genetics, King's College London, Guy's Hospital, London, UK.
Colin SmithDepartment of Neuropathology, MRC Sudden Death Brain Bank Project, University of Edinburgh, Edinburgh, UK.
Robert WalkerDepartment of Neuropathology, MRC Sudden Death Brain Bank Project, University of Edinburgh, Edinburgh, UK.
Tisham DeSchool of Public Health, Faculty of Medicine, Imperial College London, London, UK.
UK Brain Expression Consortium
North American Brain Expression Consortium
Lachlan CoinInstitute of Molecular Bioscience, The University of Queensland, Brisbane St Lucia, Queensland, Australia.
Rohan de SilvaReta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Mark R CooksonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Andrew B SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
John HardyReta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
Mina RytenDepartment of Medical & Molecular Genetics, King's College London, Guy's Hospital, London, UK.
Michael E WealeDepartment of Medical & Molecular Genetics, King's College London, Guy's Hospital, London, UK.
University College London · GBKing's College London · GBNational Institute on Aging · USUniversity of Edinburgh · GBGuy's Hospital · GBImperial College London · GBUniversity of Queensland · AU

Funding

Research Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI ALEXANDER, GENE E · 2001 to 2020
$32.5M
Characterization of Normal Genomic VariabilityZIAAG000932 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$11.3M
National Brain and Tissue Resource for Parkinson's Disease and Related DisordersU24NS072026 · NINDS · BANNER SUN HEALTH RESEARCH INSTITUTE · PI BEACH, THOMAS G · 2011 to 2015
$7.8M
Gene expression in the human brainZIAAG000947 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2009 to 2025
$7.2M
EFFECT OF AGE AND GLYCEMIA ON TRANSCRIPTION FACTORSK01AG000947 · NIA · UNIVERSITY OF VERMONT &ST AGRIC COLLEGE · PI FUKAGAWA, NAOMI K · 2000 to 2004
$629k
Gene expression in the human brainZ01AG000947 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2008 to 2008
$73k
Intramural NIH HHSMedical Research Council G0501560Medical Research Council G0802462Medical Research Council G0901254Medical Research Council MC_G1000735Medical Research Council MR/K01417X/1Medical Research Council MR/L016400/1NIA NIH HHS K01 AG000947NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG19610NIA NIH HHS Z01 AG000947NINDS NIH HHS U24 NS072026Parkinson's UK G-0907Parkinson's UK K-1212Wellcome Trust 089698
6 · The paper itself

Abstract

Germ-line genetic control of gene expression occurs via expression quantitative trait loci (eQTLs). We present a large, exon-specific eQTL data set covering ten human brain regions. We found that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons. Co-regulation analysis of shared eQTL signals produced well-defined modules of region-specific co-regulated genes, in contrast to standard coexpression analysis of the same samples. We report cis-eQTL signals for 23.1% of catalogued genome-wide association study hits for adult-onset neurological disorders. The data set is publicly available via public data repositories and via http://www.braineac.org/. Our study increases our understanding of the regulation of gene expression in the human brain and will be of value to others pursuing functional follow-up of disease-associated variants.

Indexed as

Gene Expression RegulationGenetic Predisposition to DiseaseQuantitative Trait LociAdolescentAdultAgedAged, 80 and overBrainFemaleGene Expression ProfilingGenetic Association StudiesHumansMaleMiddle AgedNervous System DiseasesOligonucleotide Array Sequence Analysis

Identifiers

PMID25174004
PMCPMC4208299
OpenAlexW2094379190

What OpenQuestion holds

Textmetadata
LicenceTDM
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.