Evidence map›Paper›PMID 29066808›Full record

ArticleNature communications2017

Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder.

Shan V Andrews, Shannon E Ellis, Kelly M Bakulski, Brooke Sheppard, Lisa A Croen, Irva Hertz-Picciotto, Craig J Newschaffer, Andrew P Feinberg, Dan E Arking, Christine Ladd-Acosta and 1 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed, 1 pooled it
5.1field-weighted citation impact, top 4% 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

53 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Evaluation of Erythropoietin and Erythropoietin Receptor Levels in Children with Autistic Spectrum Disorder: Cross-sectional Study.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2025
    Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Article
  13. What are quantitative traits and how can they be used in autism research?Autism research : official journal of the International Society for Autism Research · 2023
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Blood RNA Sequencing Indicates UpregulatedInternational journal of molecular sciences · 2022
    Article
  20. Article
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

11 authors at 5 institutions in 1 country.

Shan V AndrewsDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615N. Wolfe St, Baltimore, MD, 21205, USA.ORCID http://orcid.org/0000-0001-5484-5306
Shannon E EllisMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, 733 N. Broadway, Baltimore, MD, 21205, USA.ORCID http://orcid.org/0000-0002-9231-0481
Kelly M BakulskiDepartment of Epidemiology, University of Michigan School of Public Health, 1415 Washington Heights, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0002-9605-6337
Brooke SheppardDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615N. Wolfe St, Baltimore, MD, 21205, USA.
Lisa A CroenDivision of Research, Kaiser Permanente Northern California, 2000 Broadway, Oakland, CA, 94612, USA.ORCID http://orcid.org/0000-0001-7849-9428
Irva Hertz-PicciottoDepartment of Public Health Sciences, School of Medicine, University of California Davis, 4610 X St, Sacramento, CA, 95817, USA.
Craig J NewschafferAJ Drexel Autism Institute, Drexel University, 3020 Market St #560, Philadelphia, PA, 19104, USA.
Andrew P FeinbergCenter for Epigenetics, Institute for Basic Biomedical Sciences, Johns Hopkins School of Medicine, 733 N. Broadway, Baltimore, MD, 21205, USA.
Dan E ArkingWendy Klag Center for Autism and Developmental Disabilities, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe St, Baltimore, MD, 21205, USA.
Christine Ladd-AcostaDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615N. Wolfe St, Baltimore, MD, 21205, USA. claddac1@jhu.edu.ORCID http://orcid.org/0000-0002-7697-3998
M Daniele FallinWendy Klag Center for Autism and Developmental Disabilities, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe St, Baltimore, MD, 21205, USA. dfallin@jhu.edu.
Johns Hopkins University · USDrexel University · USKaiser Permanente · USUniversity of California Davis Medical Center · USUniversity of Michigan · US

Funding

Autism Genetics, Phase II: Increasing Representation of Human DiversityR01MH100027 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2013 to 2024
$31.7M
Environment, The Perinatal Epigenome, and Risk for Autism and Related DisordersR01ES017646 · NIEHS · JOHNS HOPKINS UNIVERSITY · PI FALLIN, M DANIELE, FEINBERG, ANDREW P. · 2009 to 2013
$8.7M
MD CADDRE: Study to Explore Early Development, SEED Phase IIU01DD000746 · DD · JOHNS HOPKINS UNIVERSITY · PI FALLIN, M DANIELE · 2011 to 2015
$7.0M
Component A: MD CADDRE: Study to Explore Early Development, SEED Phase IIIU01DD001214 · DD · JOHNS HOPKINS UNIVERSITY · PI FALLIN, M DANIELE · 2016 to 2020
$5.2M
Prenatal exposure to metals and risk for Autism Spectrum Disorder in MARBLES and EARLIR01ES025531 · NIEHS · JOHNS HOPKINS UNIVERSITY · PI VOLK, HEATHER E · 2016 to 2020
$3.2M
Genome-wide Environment Interaction Study for Autism: The SEED studyR01ES019001 · NIEHS · JOHNS HOPKINS UNIVERSITY · PI FALLIN, M DANIELE, NEWSCHAFFER, CRAIG J · 2009 to 2010
$1.4M
NCBDD CDC HHS U01 DD000746NCBDD CDC HHS U01 DD001214NIEHS NIH HHS R01 ES017646NIEHS NIH HHS R01 ES019001NIEHS NIH HHS R01 ES025531NIMH NIH HHS R01 MH100027Wellcome Trust
6 · The paper itself

Abstract

Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral blood to identify SNPs associated with DNA methylation (meQTL lists). Additionally, we use publicly available fetal brain and lung meQTL lists to assess enrichment of ASD GWAS results for tissue-specific meQTLs. ASD-associated SNPs are enriched for fetal brain (OR = 3.55; P < 0.001) and peripheral blood meQTLs (OR = 1.58; P < 0.001). The CpG targets of ASD meQTLs across cord, blood, and brain tissues are enriched for immune-related pathways, consistent with other expression and DNAm results in ASD, and reveal pathways not implicated by genetic findings. This joint analysis of genotype and DNAm demonstrates the potential of both brain and blood-based DNAm for insights into ASD and psychiatric phenotypes more broadly.

Indexed as

Epigenesis, GeneticAutism Spectrum DisorderBrainCase-Control StudiesChild, PreschoolCpG IslandsDNA MethylationEpigenomicsFetal BloodFollow-Up StudiesGenome-Wide Association StudyGenotypeHumansInfantInfant, NewbornLung

Identifiers

PMID29066808
PMCPMC5654961
OpenAlexW2949285056

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.