Nat Genet: Large-scale population study finds 72 genes linked to autism

A new study of differentially neurodevelopmental genes has identified more than 70 genes strongly associated with autism, and more than 250 genes strongly associated with autism

These results provide the most comprehensive view to date of various forms of genetic variation in autism and more broadly defined neurodevelopmental conditions

The findings come from the Autism Sequencing Consortium, the Simons Foundation Powering Autism Research initiative, the Lundbeck Foundation Initiative for Integrative Psychiatric Research ), Population-Based Autism Genetics and Environmental Study, and a collaboration of scientists and datasets from the Center for Genomics of Common Diseases

The new work appears in Nature Genetics along with three related studies that use some of the same data to advance understanding of the genetic basis of autism

The researchers explored the genes disrupted by these variants through a combined analysis of protein truncating variants (PTVs), missense variants, and copy number variants (CNVs) in 63,237 individuals

"We know that many genes, when mutated, contribute to autism, and in this unprecedented study, we were able to combine multiple mutation types across a large sample to gain a richer picture of what is involved in autism.

In an analysis led by co-first author Minshi Peng, a graduate student in the lab of co-first author Kathryn Roeder, Ph.

"These analyses suggest that there are shared genetic risk factors between autism and other neurological and psychiatric disorders," said Dr.

"Our findings benefit not only from large-scale, rich data collection in autism research and population genetics studies, but also from newly developed analytical methods that allow us to explore the genetic roots of neurodevelopmental variation in new ways

Based on the findings, Dr.

"A key conclusion is that autism has many genetic mutations that drive it, so genetic testing is warranted, not only for the benefit of families and individuals at risk for autism spectrum disorder, but also to advance treatment development," said Bu Dr.

Other co-senior authors of the study include Dr.

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Original source:

Fu, JM, Satterstrom, FK, Peng, M.