Placental transcriptome and autism

Here, using a nested case-cohort design within an Australian population-derived prebirth cohort study (n=1074), we assessed the differential expression of genes and pathways in the placenta, comparing 43 children with a paediatrician-confirmed diagnosis of autism using DSM-5 criteria with a random sample of 120 participants without autism. We identified 1,644 differentially expressed genes (DEGs; FDR<0.05) in the placenta of children with autism compared to the control sub-cohort.

The top enriched pathways related to mitochondrial function, oxidative stress and ribosomal pathways. CYP1A1, the most important xenobiotic-metabolising enzyme of the placenta, was the top downregulated DEG in the placenta of children with autism, while immuno-regulatory human leukocyte antigen (HLA)-related genes were among the top upregulated DEGs. We also used sparse partial least squares discriminant analysis to predict autism from the transcriptomic data.