Evidence map›Paper›PMID 31719968›Full record

ArticleMolecular autism2019

RNA sequencing of identical twins discordant for autism reveals blood-based signatures implicating immune and transcriptional dysregulation.

Ayden Saffari, Matt Arno, Eric Nasser, Angelica Ronald, Chloe C Y Wong, Leonard C Schalkwyk, Jonathan Mill, Frank Dudbridge, Emma L Meaburn

Open access · goldAbstract read
In one paragraph

Article in Molecular autism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

18 citing papers in PubMed, 30 citations in OpenAlex.

  1. Article
  2. Longitudinal Characterization of GiantResearch (Washington, D.C.) · 2026
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  12. Blood RNA Sequencing Indicates UpregulatedInternational journal of molecular sciences · 2022
    Article
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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

9 authors at 6 institutions in 1 country.

Ayden Saffari1Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Matt Arno3Edinburgh Genomics, University of Edinburgh, Edinburgh, Scotland UK.
Eric Nasser4King's Genomics Centre, King's College London, London, UK.
Angelica Ronald2Centre for Brain and Cognitive Development, Department of Psychological Sciences, Birkbeck, University of London, London, UK.
Chloe C Y Wong5Social Genetic and Developmental Psychology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Leonard C Schalkwyk6School of Life Sciences, University of Essex, Colchester, UK.
Jonathan Mill7University of Exeter Medical School, University of Exeter, Exeter, UK.
Frank Dudbridge1Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Emma L Meaburn2Centre for Brain and Cognitive Development, Department of Psychological Sciences, Birkbeck, University of London, London, UK.ORCID 0000-0001-8096-9089
King's College London · GBBirkbeck, University of London · GBLondon School of Hygiene & Tropical Medicine · GBUniversity of Essex · GBUniversity of Exeter · GBUniversity of Leicester · GB

Funding

Medical Research Council G0901245Medical Research Council MR/M021475/1
6 · The paper itself

Abstract

Background: A gap exists in our mechanistic understanding of how genetic and environmental risk factors converge at the molecular level to result in the emergence of autism symptoms. We compared blood-based gene expression signatures in identical twins concordant and discordant for autism spectrum condition (ASC) to differentiate genetic and environmentally driven transcription differences, and establish convergent evidence for biological mechanisms involved in ASC. Methods: Genome-wide gene expression data were generated using RNA-seq on whole blood samples taken from 16 pairs of monozygotic (MZ) twins and seven twin pair members (39 individuals in total), who had been assessed for ASC and autism traits at age 12. Differential expression (DE) analyses were performed between (a) affected and unaffected subjects ( Results: In the discordant twin analysis, three genes showed evidence for DE at FDR < 10%: Limitations: Identical twins stably discordant for ASC are rare, and as such the sample size was limited and constrained to the use of peripheral blood tissue for transcriptomic and methylomic profiling. Given these primary limitations, we focused on transcript-level analysis. Conclusions: Using a cohort of ASC discordant and concordant MZ twins, we add to the growing body of transcriptomic-based evidence for an immune-based component in the molecular aetiology of ASC. Whilst the sample size was limited, the study demonstrates the utility of the discordant MZ twin design combined with multi-omics integration for maximising the potential to identify disease-associated molecular signals.

Indexed as

Gene Expression ProfilingGene Expression RegulationSequence Analysis, RNATranscription, GeneticAutistic DisorderCase-Control StudiesCluster AnalysisDNA MethylationFemaleHumansMaleTwins, MonozygoticAutism spectrum disorderDiscordanceDNA methylationEpigenomicsGene expressionImmuneMZ twinsRNA-seqTranscriptomics

Identifiers

PMID31719968
PMCPMC6839145
OpenAlexW2987038341

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.