Evidence map›Paper›PMID 20375269›Full record

ArticleFASEB journal : official publication of the Federation of American Societies for Experimental Biology2010

Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain.

AnhThu Nguyen, Tibor A Rauch, Gerd P Pfeifer, Valerie W Hu

Open access · greenAbstract readTwin Study
PubMed Full text at PMC Publisher
In one paragraph

Article in FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 187 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
187citing papers in PubMed, 3 pooled it
16.1field-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

187 citing papers in PubMed, 3 syntheses or guidelines pooled it, 354 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Trial
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  13. Assessing the causal association between celiac disease and autism spectrum disorder: A two-sample Mendelian randomization approach.Autism research : official journal of the International Society for Autism Research · 2025
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  14. Review
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127 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

4 authors at 3 institutions in 1 country.

AnhThu NguyenCorrespondence: Department of Biochemistry and Molecular Biology, George Washington University Medical Center, 2300 Eye St., N.W., Washington, DC 20037, USA.
Tibor A Rauch
Gerd P Pfeifer
Valerie W Hu
City of Hope · USGeorge Washington University · USWashington University Medical Center · US

Funding

Center for Genomic and Phenomic Studies in AutismU24MH081810 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LAJONCHERE, CLARA M · 2007 to 2011
$8.3M
Genomic analyses of autism spectrum disordersR21MH073393 · NIMH · GEORGE WASHINGTON UNIVERSITY · PI HU, VALERIE W · 2006 to 2008
$392k
Autism Speaks AS2381NIMH NIH HHS 1U24MH081810NIMH NIH HHS R21 MH073393NIMH NIH HHS U24 MH081810
6 · The paper itself

Abstract

Autism is currently considered a multigene disorder with epigenetic influences. To investigate the contribution of DNA methylation to autism spectrum disorders, we have recently completed large-scale methylation profiling by CpG island microarray analysis of lymphoblastoid cell lines derived from monozygotic twins discordant for diagnosis of autism and their nonautistic siblings. Methylation profiling revealed many candidate genes differentially methylated between discordant MZ twins as well as between both twins and nonautistic siblings. Bioinformatics analysis of the differentially methylated genes demonstrated enrichment for high-level functions including gene transcription, nervous system development, cell death/survival, and other biological processes implicated in autism. The methylation status of 2 of these candidate genes, BCL-2 and retinoic acid-related orphan receptor alpha (RORA), was further confirmed by bisulfite sequencing and methylation-specific PCR, respectively. Immunohistochemical analyses of tissue arrays containing slices of the cerebellum and frontal cortex of autistic and age- and sex-matched control subjects revealed decreased expression of RORA and BCL-2 proteins in the autistic brain. Our data thus confirm the role of epigenetic regulation of gene expression via differential DNA methylation in idiopathic autism, and furthermore link molecular changes in a peripheral cell model with brain pathobiology in autism.

Indexed as

Brain ChemistryDNA MethylationEpigenesis, GeneticCell LineChildChild Development Disorders, PervasiveGenetic Predisposition to DiseaseHumansLymphocytesMaleNuclear Receptor Subfamily 1, Group F, Member 1Nuclear Receptor Subfamily 1, Group F, Member 1RORA protein, human

Identifiers

PMID20375269
PMCPMC2909294
OpenAlexW2165836069

What OpenQuestion holds

Textmetadata
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.