A multi-omic approach identifies an autism spectrum disorder (ASD) regulatory complex of functional epimutations in placentas from children born preterm.
Anastasia N Freedman, Jeliyah Clark, Lauren A Eaves and 12 others
PMID 36938998WHAT IT FOUND
Placental gene expression patterns in extremely preterm infants were linked to later ASD diagnosis.
High levels of specific genes predicted increased odds of ASD, while low levels of others were associated with higher risk. These biological markers cannot yet be used to screen or diagnose children.
Key findings
01Of 368 extremely preterm infants, 28 (8%) were diagnosed with ASD at age 10, and placental mRNA expression of 111 genes differed significantly between those with ASD and those without.
02High placental expression of the EWSR1 gene was associated with 6.57 times the odds of an ASD diagnosis, whereas high expression of the LRRFIP1 gene was associated with lower odds (0.42 times).
03Approximately 12% of the ASD-associated genes showed evidence of being regulated by miRNAs, and 8% by CpG methylation, suggesting epigenetic control of these placental gene expressions.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study only included infants born extremely preterm, so the results may not apply to children born at term. This is an observational study, so it cannot prove that these placental changes caused the ASD. The replication in term infants was weak, with most associations failing to reach statistical significance. The number of children with ASD was small (28), which reduces the stability of the estimates for specific genes.
Declared interests
The authors declare no competing interests. The study was supported by the N.I.H. (Extramural).
The easy way to misread this
Do not interpret these placental gene markers as a diagnostic tool or a cause of ASD. The study found associations in a specific group of extremely preterm infants, and the replication in term infants was inconclusive. These findings are for understanding biological mechanisms, not for clinical screening or treatment decisions.