H19/miR-484 axis serves as a candidate biomarker correlated with autism spectrum disorder.

Background: Autism spectrum disorder (ASD) appears to be a common neurological developmental deficit disorder in pediatric patients, resulting in a tremendous burden on society.

Purpose: The article aimed to explore early diagnostic markers for ASD.

Methods: Levels of long non-coding RNA (lncRNA) H19 and microRNA-484 (miR-484) were detected using fluorescence quantitative polymerase chain reaction (PCR). The Spearman method was applied for the correlation analysis with ASD severity. To evaluate the role of H19 and miR-484 role in ASD diagnosis, the receiver operator characteristic (ROC) curve was plotted. Luciferase reporter assay was used to confirm the targeting relationship between H19 and miR-484. The functions and pathways related to miR-484 target genes were annotated by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis.

Results: Elevated H19 levels were detected in ASD patients, which was positively correlated with disease severity. MiR-484 showed a decreasing trend in ASD patients, while it was negatively related to disease severity. Both H19 and miR-484 can distinguish ASD cases from controls with an AUC of 0.878 and 0.868, respectively. Luciferase reporter assay determined the target relationship between H19 and miR-484., and their combination showed the highest diagnostic value for ASD (AUC = 0.906). GO and KEGG analysis demonstrated the targeted genes of miR-484 were related to the development of ASD, and EIF4G2 and SMARCA2 were the main core genes.

Conclusion: H19 and miR-484 were dysregulated in ASD patients and were both associated with disease severity. The combined H19 and miR-484 represented a high diagnostic value for ASD.