Major study may identify genes linked to autism

A study published Thursday in the journal (18) Nature Genetics carried out largest genetic analysis to dateAn investigation of neurodevelopmental differences in 150,000 participants, 20,000 of whom were diagnosed. autism spectrum disorder. More than 70 genes were found to be clearly associated with the condition, and more than 250 genes were found to have strong links to the disease.

As a result of a first-of-its-kind collaboration between scientists and four of the largest autism gene sequencing consortia, the study gained access to “large-scale, research-rich data collections on autism” generated by newly developed analytical methods. “, According to the report. Michael Talkowski, co-author of the article.

What did the analysis of the databases reveal?

According to the authors, the results offer a more comprehensive view of the different forms of genetic variation found in autism spectrum disorder (ASD).

For co-senior author Joseph D. Buxbaum, although it is well known by the scientific community that genetic mutations contribute to autism, the study was for the first time ” able to bring together several types of mutations in a wide variety of samples,” providing a much more accurate picture of the richness of the genes and genetic architecture involved in autism. to do.”

The results of the study include that major genes associated with developmental delay are usually active at the beginning of neuronal formation, while those related to ASD tend to act in already mature neurons. In another analysis of more than 20,000 samples from people with schizophrenia, the researchers found: DNA components linked to autism also increase risk of psychosis.

ARTICLE Nature Genetics – DOI: 1038/s41588-022-01104-0.