Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits.
Aicha Massrali, Helena Brunel, Eilis Hannon and 3 others
PMID 31346403WHAT IT FOUND
Cord blood methylation did not predict later autistic traits in 701 children.
However, genetic variants linked to autism were enriched in DNA regions associated with these traits, suggesting shared biology that requires further replication.
Key findings
01No specific DNA methylation sites in cord blood were significantly associated with autistic traits measured at age 8 after correcting for multiple testing.
02Genetic variants that influence methylation at sites associated with autistic traits were significantly enriched in genome-wide studies of autism.
03There was no significant overlap in methylation patterns between this study of autistic traits and previous studies of autism in peripheral blood.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study did not find any significant individual methylation markers, meaning the results rely on broader genetic trends rather than specific biological markers. The sample size was relatively small for detecting subtle epigenetic effects. The study cannot determine causality; it is unclear if the genetic variants influence autism through methylation or through separate pathways. The SCDC measures social communication traits but does not capture the non-social repetitive behaviors often seen in autism. Information on gestational age at birth was not available to adjust for.
Declared interests
The authors declared no competing interests. The study was supported by grants from the Wellcome Trust, the Medical Research Council, and other UK and US funding bodies.
The easy way to misread this
Do not interpret the genetic enrichment as evidence that a specific blood test can diagnose autism. The study failed to identify any significant methylation markers in the blood that predicted autistic traits, and the genetic link is a statistical trend that needs replication in independent studies.