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Blood Proteomics Analysis Reveals Potential Biomarkers and Convergent Dysregulated Pathways in Autism Spectrum Disorder: A Pilot Study

journal contribution
submitted on 2024-07-02, 08:14 and posted on 2024-07-02, 08:14 authored by Areej Mesleh, Hanan Ehtewish, Alberto de la Fuente, Hawra Al-shamari, Iman Ghazal, Fatema Al-Faraj, Fouad Al-Shaban, Houari B. Abdesselem, Mohamed Emara, Nehad M. Alajez, Abdelilah Arredouani, Julie Decock, Omar Albagha, Lawrence W. Stanton, Sara A. Abdulla, Omar M. A. El-Agnaf

Autism spectrum disorder (ASD) is an umbrella term that encompasses several disabling neurodevelopmental conditions. These conditions are characterized by impaired manifestation in social and communication skills with repetitive and restrictive behaviors or interests. Thus far, there are no approved biomarkers for ASD screening and diagnosis; also, the current diagnosis depends heavily on a physician’s assessment and family’s awareness of ASD symptoms. Identifying blood proteomic biomarkers and performing deep blood proteome profiling could highlight common underlying dysfunctions between cases of ASD, given its heterogeneous nature, thus laying the foundation for large-scale blood-based biomarker discovery studies. This study measured the expression of 1196 serum proteins using proximity extension assay (PEA) technology. The screened serum samples included ASD cases (n = 91) and healthy controls (n = 30) between 6 and 15 years of age. Our findings revealed 251 differentially expressed proteins between ASD and healthy controls, of which 237 proteins were significantly upregulated and 14 proteins were significantly downregulated. Machine learning analysis identified 15 proteins that could be biomarkers for ASD with an area under the curve (AUC) = 0.876 using support vector machine (SVM). Gene Ontology (GO) analysis of the top differentially expressed proteins (TopDE) and weighted gene co-expression analysis (WGCNA) revealed dysregulation of SNARE vesicular transport and ErbB pathways in ASD cases. Furthermore, correlation analysis showed that proteins from those pathways correlate with ASD severity. Further validation and verification of the identified biomarkers and pathways are warranted.

Other Information

Published in: International Journal of Molecular Sciences
See article on publisher's website:


Qatar National Research Fund (GSRA6-1-0616-19097), PhD-Identification of Novel Biomarkers in Autism Spectrum Disorder Patients for Early Diagnosis and Molecular Stratification.



  • English



Publication Year

  • 2023

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License.

Institution affiliated with

  • Hamad Bin Khalifa University
  • College of Health and Life Sciences - HBKU
  • Qatar Biomedical Research Institute - HBKU
  • Cancer Research Center - QBRI
  • Diabetes Research Center - QBRI
  • Qatar University
  • Qatar University Health - QU
  • College of Medicine - QU HEALTH

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