Study identifies potential genetic subtypes of autism
Researchers have proposed that autism spectrum disorder may consist of genetically distinct subtypes, based on an analysis of large-scale genetic data. This finding could lead to more personalized approaches to diagnosis and treatment. The study highlights variations in genetic markers among individuals with autism.
Autism spectrum disorder (ASD) has long been viewed as a single condition with a wide range of symptoms, but a recent study suggests it may encompass multiple genetically distinct subtypes. Published in the journal Nature Medicine and reported by New Scientist, the research analyzed genomic data from over 100,000 individuals, including those with autism and neurotypical controls.
The team, led by researchers from the University of California, San Diego, and other institutions, used advanced statistical methods to cluster genetic variations. They identified four potential subtypes of autism, each associated with different sets of genetic markers and possibly distinct biological pathways. For instance, one subtype showed enrichment in genes related to synaptic function, while another was linked to immune system regulation.
"Our findings indicate that what we call autism might actually be several different conditions at the genetic level," said lead author Sanja Teppala in the New Scientist article. This genetic heterogeneity could explain the variability in how individuals respond to interventions, as current diagnoses rely primarily on behavioral observations rather than underlying biology.
The study drew from the largest dataset yet for such analysis, including data from the Autism Sequencing Consortium and other biobanks. Participants ranged in age and severity of symptoms, providing a broad representation. Notably, the subtypes were not defined by symptom severity alone but by shared genetic signatures, which appeared across diverse populations.
While promising, the researchers emphasized that these subtypes require further validation through additional studies and functional experiments. Implications include the potential for targeted therapies; for example, subtype-specific drugs could address particular genetic drivers. However, the study does not claim to redefine autism entirely, noting that environmental factors still play a role.
This work builds on prior research showing autism's high heritability—estimated at 80%—but moves beyond broad risk genes like CHD8 or SHANK3 toward subtype classification. By stratifying autism genetically, it may pave the way for precision medicine in neurodevelopmental disorders, ultimately improving outcomes for the estimated 1 in 36 children diagnosed with ASD in the US.