ArticleTranslational psychiatry2020
Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder.
Article in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.Science advances · 2026Article
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- Immune profiling shows limited systemic changes in children with autism after autologous cord blood transfusion.Frontiers in immunology · 2026Article
- N6-methyladenosine methylation: a novel key to unlocking mental disorders.The international journal of neuropsychopharmacology · 2025Review
- Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder.Biomedicines · 2024Article
- Autism Spectrum Disorder with Epilepsy: A Research Protocol for a Clinical and Genetic Study.Genes · 2023Article
- Exploratory analysis of L1 retrotransposons expression in autism.Molecular autism · 2023Article
- Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs.Translational psychiatry · 2023Article
- RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.Scientific reports · 2023Article
- Blood RNA Sequencing Indicates UpregulatedInternational journal of molecular sciences · 2022Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- Genetic contributions to autism spectrum disorder.Psychological medicine · 2021Review
- Sex-specific differences in peripheral blood leukocyte transcriptional response to LPS are enriched for HLA region and X chromosome genes.Scientific reports · 2021Article
- Natural SINEUP RNAs in Autism Spectrum Disorders:Frontiers in genetics · 2021Article
- An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition.Frontiers in neurology · 2021Article
- Identification of key genes unique to the luminal a and basal-like breast cancer subtypes via bioinformatic analysis.World journal of surgical oncology · 2020Article
- Immune regulation of neurodevelopment at the mother-foetus interface: the case of autism.Clinical & translational immunology · 2020Review
Corrections and comments
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Authors and funding
9 authors at 18 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Notwithstanding several research efforts in the past years, robust and replicable molecular signatures for autism spectrum disorders from peripheral blood remain elusive. The available literature on blood transcriptome in ASD suggests that through accurate experimental design it is possible to extract important information on the disease pathophysiology at the peripheral level. Here we exploit the availability of a resource for molecular biomarkers in ASD, the Italian Autism Network (ITAN) collection, for the investigation of transcriptomic signatures in ASD based on a discordant sibling pair design. Whole blood samples from 75 discordant sibling pairs selected from the ITAN network where submitted to RNASeq analysis and data analyzed by complementary approaches. Overall, differences in gene expression between affected and unaffected siblings were small. In order to assess the contribution of differences in the relative proportion of blood cells between discordant siblings, we have applied two different cell deconvolution algorithms, showing that the observed molecular signatures mainly reflect changes in peripheral blood immune cell composition, in particular NK cells. The results obtained by the cell deconvolution approach are supported by the analysis performed by WGCNA. Our report describes the largest differential gene expression profiling in peripheral blood of ASD subjects and controls conducted by RNASeq. The observed signatures are consistent with the hypothesis of immune alterations in autism and an increased risk of developing autism in subjects exposed to prenatal infections or stress. Our study also points to a potential role of NMUR1, HMGB3, and PTPRN2 in ASD.
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