Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits.
Martina Arenella, Gemma Cadby, Ward De Witte and 12 others
PMID 34344231WHAT IT FOUND
Genetic analysis of 4600 adults links autistic traits like attention-to-detail and rigidity to immune system genes.
This suggests these traits share biological roots with autism, pointing to immune pathways as potential targets for future drug development rather than current therapy.
Key findings
01Two genetic variants were significantly associated with the trait 'attention-to-detail', specifically mapping to genes involved in immune regulation (RNF114 and CDKN2A).
02There is a shared genetic basis between clinical autism and the trait 'rigidity', though autism risk scores explained at most 0.20% of the variance in rigidity.
03Genes associated with these autistic traits are enriched for immune-related processes and synaptic signaling in brain regions linked to autism.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study used self-reported traits from the general population, not clinical diagnoses of autism. Participants were of European ancestry, limiting generalizability to other populations. The sample size (4600) is small for genome-wide studies, meaning many genetic effects may have been missed. Cohorts varied in age (19-28 years) and gender distribution, which may introduce bias. The genetic overlap between autism risk and 'rigidity' was very small, explaining less than 1% of the trait's variance. The study could not exclude the possibility that some participants had undiagnosed autism.
Declared interests
One author has been a consultant or speaker for several pharmaceutical companies (Takeda/Shire, Roche, Medice, Novartis, Angelini, Servier). Another author is the director of a drug discovery company. Funding came from public sources including the Dutch Research Council and the EU Horizon 2020 programme.
The easy way to misread this
Do not interpret these genetic links as evidence that immune-based treatments or dietary interventions will help autistic traits in patients. The study identifies biological pathways for future drug development, not clinical efficacy for current therapies.