Elucidation of Gene Signature and Pathway between Gut Microbiome Dysbiosis and Autism Spectrum Syndrome

Freddy Xing Rui Ling¹, Ying Pei Wong¹, Ee Xion Tan², Anna Pick Kiong Ling^1*

¹ Division of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Bukit Jalil, Kuala Lumpur, Malaysia

² Department of Digital Health and Health Informatics, School of Business and Technology, IMU University, Bukit Jalil, Kuala Lumpur, Malaysia

Abstract

                Due to the increase prevalence in the neurological diseases (ND), it had become a concern where more advancements are required to be discovered in resolving this issue. Despite the current treatment available, the concept of involving the gut-brain axis may provide another possible alternative to treat ND from the site of gut microbiome. To achieve this goal, the association between ND and gut microbiome should be studied. Therefore, this study aimed to explore the possible association between autism spectrum syndrome (ASD) and irritable bowel disease (IBD) from the aspect of differentially expressed genes (DEGs) and their pathways. In this study, a total of four datasets were obtained from Gene Expression Omnibus (GEO), which were GSE111176, GSE13367, GSE36701 and GSE87847. From there, the differentially expressed genes (DEGs) were selected based on the criteria where Log2FC > 1.0 and p-value < 0.05. The functional genomics analysis of shared DEGs were then measured through gene oncology (GO) enrichment on Database for Annotation, Visualization and Integrated Discovery database (DAVID). The biological processes that fulfilled the criteria p-value < 0.05 and false discovery rate (FDR) value < 0.05 were selected for the predictive model development using web-based GeneMANIA. There were 874 shared DEGs between ASD and IBD in total. The common biological processes where the shared DEGs in both ASD and IBD were signal transduction, inflammation and apoptosis process. From the co-expression network, the interaction of DEGs for both ASD and IBD were shown. The protein-protein interaction (PPI) network also demonstrated the DEGs that involved in leukocyte cell-cell adhesion and B cell activation were LYN, JAK3, ITGB1, PTPRC. The interaction between LYN and PTPRC had been examined.  In conclusion, the association and the most commonly found biological processes which involved in shared DEGs between ASD and IBD had been examined in this study.

Keywords: Autism spectrum syndrome; differentially expressed genes; Gut-brain axis; Gut microbiome; Gut microbiome dysbiosis

Full length article    *Corresponding Author, e-mail: anna_ling@imu.edu.my, Doi # https://doi.org/10.62877/30-IJCBS-25-27-21-30