Toronto, Ontario – Scientists have identified 134 new genes that increase the risk of autism. In the largest genome sequence analysis ever performed for autism, researchers at the hospital for sick children identified hundreds of genetic alterations that build a picture of the ‘genomic architecture’ that underlies autism. discovered.
The authors of this study used whole-genome sequencing to examine the genes of more than 7,000 individuals with autism and another 13,000 of their relatives. Whole-genome sequencing enabled the team to uncover variant types that otherwise would not have been detected, such as complex DNA rearrangements and tandem repeat expansions. The 134 newly discovered genes had many genetic variations, from duplications to inversions to random insertions of nucleotide sequences.
“By sequencing the entire genomes of all participants and deeply engaging families participating in the MSSNG in shaping research priorities, we maximize the chances of discovery, ensuring that from minimal DNA alterations to Stephen Scherer, director of research at SickKids and director of the McLaughlin Center at the University of Toronto, said in a media release.
Is autism inherited from parents?
This study traced the role of genetics in families with only one individual with autism compared to families with multiple individuals with autism. After looking at her maternally inherited mitochondrial DNA, the team found that it accounted for only 2% of her autism cases. We created a polygenic score to estimate their likelihood of developing autism, and surprisingly, there was no increased risk among families.
“This suggests that autism in multiple families is likely associated with rare and high-impact variants inherited from parents,” said lead author, The Hospital for said Brett Trost, a researcher in the Genetics & Genome Biology program at Sick Children. “Both the genetics and clinical features associated with autism are highly complex and diverse, so in order for researchers to more clearly understand the genetic makeup of autism, we used Such large datasets are essential.”
The findings may help identify genetic variants with the highest risk of autism spectrum disorders. In another study, Dr. Scherer’s team studied the genomes of 325 families with autism. They found that a combination of spontaneous, rare inherited, and polygenic genetic factors can lead to different subtypes of autism.
Suzanne Lewis, geneticist and scientist at the BC Children’s Hospital Research Institute, added: “This rich dataset also provides an opportunity to look deeper into other factors that may determine an individual’s likelihood of developing this complex condition, which will help individualize future treatment approaches.” .”
The research is published in the journal cell.
