Largest study yet identifies over 200 genes strongly linked to autism


story at a glance


  • As of 2017, approximately 5.4 million American adults have an autism spectrum disorder.

  • The results of the larger study may help drive future treatments for the condition.

  • The researchers also hope that the findings will lead to genetic testing to identify those at risk.

The analysis of more than 150,000 people, 20,000 of whom have autism, revealed more than 250 genes that have a strong association with the condition, the largest and most comprehensive study of its kind to date. The findings were published in the journal Nature Genetics.

The findings open up the possibility of a precision medicine approach for autism, a personalized care procedure that is gaining popularity in other disease states where genetic mutations increase certain risks.

“Some individuals with autism spectrum disorder carry functional mutations rarely seen in the general population,” explained the researchers. To better understand the genes disrupted by these variants, the investigators assessed data from participants from the Autism Sequencing Consortium, the Simons Foundation Powering Autism Research Initiative, and three other consortiums.

The authors hope that the findings will help promote future insights on the molecular roots of brain development and neural diversity, while enabling future research on the biology of the condition.

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Previous research has already shown that mutated genes contribute to autism. However, “in this unprecedented study, we were able to bring together multiple types of mutations across a wide range of samples to obtain a more enriched understanding of the genes and genetic architecture involved in autism and other neurodevelopmental conditions,” said co-authors. Joseph said. D., of the Seaver Autism Center for Research and Treatment at Mount Sinai. Buxbaum said in a statement.

The results may also yield potential targets for autism treatment.


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In the United States, the Centers for Disease Control and Prevention (CDC) estimates that as of 2017 approximately 2.2 percent of adults currently live with an autism spectrum disorder, or about 5.4 million individuals.

Several analyzes were conducted as part of the study, one of which showed that genes related to autism were more active in more mature neurons, while genes associated with developmental delay were more active in early neuronal development. An additional analysis showed that genes strongly associated with autism were also more likely to be associated with genes that increase the risk of schizophrenia, the researchers said, underscoring the shared genetic risk factors between autism and other mental disorders. Happened.

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In addition to the large-scale data collection employed in the study, investigators were also able to understand where, when and how certain genes express effects during neurodevelopment, said co-author Michael Tokowski of the Center for Genomic Medicine at Massachusetts General Hospital. . ,

Based on the findings, genetic testing is needed, the authors say, to identify those at risk and drive therapeutic development.

Buxbaum said, “The more therapeutics we can advance based on the targets identified in these genetic findings have the potential to help more people, which could have a significant impact in addressing autism and developmental delays around the world.” Is.”

Published on August 19, 2022



(This story has not been edited by seemayo staff and is published from a rss feed)

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