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

Abstract 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.