ArticleScientific reports2023
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 11 citations in OpenAlex.
- Cortical transcriptomic dysregulation in Autism spectrum disorder: A conceptual synthesis.IBRO neuroscience reports · 2026Review
- Mapping lncRNAs onto multilevel mRNA co‑expression modules in autism.Translational psychiatry · 2026Article
- Sex specific effects of adoptive Tregs transfer on the brain and periphery in maternal immune activation offspring rescuing immune dysregulation.Journal of neuroinflammation · 2026Article
- Sex specific effects of adoptive Tregs transfer on the brain and periphery in maternal immune activation offspring rescuing immune dysregulation.Research square · 2026Article
- Distinct protein profiles in cord blood plasma of children with autism spectrum disorder.Scientific reports · 2025Article
- A Multiomics Approach to Defining Target-Organ Injury in Youths With Primary Hypertension: The SHIP AHOY Cohort.Journal of the American Heart Association · 2025Article
- Statistical Methods for Multi-Omics Analysis in Neurodevelopmental Disorders: From High Dimensionality to Mechanistic Insight.Biomolecules · 2025Review
- Exploring the Association Between Human Blood Metabolites and Autism Spectrum Disorder Risk: A Bidirectional Mendelian Randomization Study.Health science reports · 2025Article
- tVNS alters inflammatory response in adult VPA-induced mouse model of autism: evidence for sexual dimorphism.FEBS open bio · 2025Article
- Immune signature of gene expression pattern shared by autism spectrum disorder and Huntington's disease.IBRO neuroscience reports · 2024Article
- Deciphering autism heterogeneity: a molecular stratification approach in four mouse models.Translational psychiatry · 2024Article
- A Multi-Omics Approach to Defining Target Organ Injury in Youth with Primary Hypertension.bioRxiv : the preprint server for biology · 2024Article
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental condition with onset in early childhood, still diagnosed only through clinical observation due to the lack of laboratory biomarkers. Early detection strategies would be especially useful in screening high-risk newborn siblings of children already diagnosed with ASD. We performed RNA sequencing on peripheral blood, comparing 27 pairs of ASD children vs their sex- and age-matched unaffected siblings. Differential gene expression profiling, performed applying an unpaired model found two immune genes, EGR1 and IGKV3D-15, significantly upregulated in ASD patients (both p adj = 0.037). Weighted gene correlation network analysis identified 18 co-expressed modules. One of these modules was downregulated among autistic individuals (p = 0.035) and a ROC curve using its eigengene values yielded an AUC of 0.62. Genes in this module are primarily involved in transcriptional control and its hub gene, RACK1, encodes for a signaling protein critical for neurodevelopment and innate immunity, whose expression is influenced by various hormones and known "endocrine disruptors". These results indicate that transcriptomic biomarkers can contribute to the sensitivity of an intra-familial multimarker panel for ASD and provide further evidence that neurodevelopment, innate immunity and transcriptional regulation are key to ASD pathogenesis.
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