Identification of genes strongly linked to autism and neurodevelopmental disorders

A new study of genes underlying neurodevelopmental differences has uncovered more than 70 that are very strongly associated with autism and more than 250 with strong links to the condition. The analysis is the largest of its kind to date and includes more than 150,000 participants, 20,000 of whom have been diagnosed with autism.

The results offer the most comprehensive look yet at diverse forms of genetic variation in autism and in more broadly defined neurodevelopmental conditions. The insights shed light on the molecular roots of brain development and neurodiversity, and provide new avenues for future research on the biology of autism.

In an analysis led by co-first author Minshi Peng, the scientists examined the expression, or activity levels, of the genes they uncovered in developing human neurons. They learned that genes linked predominantly to developmental delay tend to be active in early neuronal development, whereas autism-related genes tend to play a role in more mature neurons.

Furthermore, in an analysis of more than 20,000 samples from individuals with schizophrenia, the researchers found that genes that are strongly associated with autism were also more likely to be associated with genes that increase risk for schizophrenia.

Based on the study findings,co-senior author Joseph D. Buxbaum said a precision medicine approach to autism would benefit patients, as treatments that work for individuals carrying a mutation in one gene may not work in other individuals carrying a mutation in a different gene.

Ref:

Joseph D. Buxbaum et. al, 'Rare coding variation provides insight into the genetic architecture and phenotypic context of autism,Nature Genetics,10.1038/s41588-022-01104-0