Evidence map›Paper›PMID 26619357›Full record

ArticleNature neuroscience2016

Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci.

Eilis Hannon, Helen Spiers, Joana Viana, Ruth Pidsley, Joe Burrage, Therese M Murphy, Claire Troakes, Gustavo Turecki, Michael C O'Donovan, Leonard C Schalkwyk and 2 more

Abstract read
In one paragraph

Article in Nature neuroscience, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 222 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
222citing papers in PubMed, 8 pooled it
21.1field-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

222 citing papers in PubMed, 8 syntheses or guidelines pooled it, 383 citations in OpenAlex.

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  19. Fumonisin BEpigenetics · 2025
    Article
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162 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 6 institutions in 3 countries.

Eilis HannonUniversity of Exeter Medical School, University of Exeter, Exeter, UK.
Helen SpiersInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Joana VianaUniversity of Exeter Medical School, University of Exeter, Exeter, UK.
Ruth PidsleyGarvan Institute of Medical Research, Sydney, NSW, Australia.
Joe BurrageUniversity of Exeter Medical School, University of Exeter, Exeter, UK.
Therese M MurphyUniversity of Exeter Medical School, University of Exeter, Exeter, UK.
Claire TroakesInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Gustavo TureckiDouglas Mental Health Institute, McGill University, Montreal, QC, Canada.
Michael C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK.ORCID http://orcid.org/0000-0001-7073-2379
Leonard C SchalkwykSchool of Biological Sciences, University of Essex, Colchester, UK.
Nicholas J BrayInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Jonathan MillUniversity of Exeter Medical School, University of Exeter, Exeter, UK.
King's College London · GBUniversity of Exeter · GBCardiff University · GBDouglas Mental Health University Institute · CAGarvan Institute of Medical Research · AUUniversity of Essex · GB

Funding

A multi-faceted approach to epigenomic profiling in Alzheimer's disorderR01AG036039 · NIA · KING'S COLLEGE LONDON · PI MILL, JONATHAN · 2009 to 2012
$1.7M
Medical Research Council G0700089Medical Research Council G0800509Medical Research Council G1100695Medical Research Council G9318379Medical Research Council MC_PC_15004Medical Research Council MR/K013807/1Medical Research Council MR/L010305/1Medical Research Council MR/L010674/1Medical Research Council MR/L010674/2Medical Research Council MR/L016397/1NIA NIH HHS AG036039NIA NIH HHS R01 AG036039Wellcome TrustWellcome Trust 099175/Z/12/Z
6 · The paper itself

Abstract

We characterized DNA methylation quantitative trait loci (mQTLs) in a large collection (n = 166) of human fetal brain samples spanning 56-166 d post-conception, identifying >16,000 fetal brain mQTLs. Fetal brain mQTLs were primarily cis-acting, enriched in regulatory chromatin domains and transcription factor binding sites, and showed substantial overlap with genetic variants that were also associated with gene expression in the brain. Using tissue from three distinct regions of the adult brain (prefrontal cortex, striatum and cerebellum), we found that most fetal brain mQTLs were developmentally stable, although a subset was characterized by fetal-specific effects. Fetal brain mQTLs were enriched amongst risk loci identified in a recent large-scale genome-wide association study (GWAS) of schizophrenia, a severe psychiatric disorder with a hypothesized neurodevelopmental component. Finally, we found that mQTLs can be used to refine GWAS loci through the identification of discrete sites of variable fetal brain methylation associated with schizophrenia risk variants.

Indexed as

Genetic Predisposition to DiseaseTissue BanksAdultBrainCerebellumDNA MethylationEpigenesis, GeneticFemaleFetusGene ExpressionGene Expression ProfilingGene Expression RegulationGenome-Wide Association StudyGenotyping TechniquesHumansMale

Identifiers

PMID26619357
PMCPMC4714325
OpenAlexW2219957567

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Registered trials

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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.