New Study Identifies 69 Genetic Markers for Autism Risk

A team of researchers based out of UCLA has recently identified several dozen genes that are now known to be linked with the risk of developing autism spectrum disorder.  Based on an existing study of families that have at least two children with autism, this project utilized a technique called whole genome sequencing to map the DNA of approximately 2,300 people in roughly 500 families.  From this cohort, they found 69 genes associated with a higher risk for autism spectrum disorder. 16 of these genes had not been previously suspected in relation to the condition.

On top of this, researchers were also able to identify several hundred genes they now suspect could also be related to autism risk based solely on their proximity to genes they had previously identified as carriers for increased risk.  The research also revealed there may be other biological pathways scientists had not identified previously in older autism studies. 

With this new information, of course, this study now highlights the importance of further study into genetic variants and mutations.  These are the specific differences that diversify the human genome from person to person, passed down from parent to child across generations. 

Study co-lead Elizabeth Ruzzo explains, “When we look at parents of autistic children and compare them to individuals without autism, we find that those parents carry significantly more, rare, and highly damaging gene variants.”

The UCLA postdoctoral fellow adds, “Interestingly, these variants are frequently passed from the parents to all of the affected children but none of the unaffected children, which tells us that they are significantly increasing the risk of autism.”

Getting back to the data, the study revealed that 960 children involved were eventually determined to have autism; 217 did not.  This motivated researchers to analyze the specific genetic differences between children with autism and those without, compared against different familial genetic profiles. 

Effectively, lead study author Dr. Daniel Geschwind comments that studying families with several children who have been affected by autism made it easier to detect those mutations in autism spectrum disorder that could have been inherited. The UCLA David Geffen School of Medicine Virginia MacDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry adds, “We show a substantial difference between the types of mutations that occur in different types of families, such as those that have more than one affected child versus those having only one child with ASD.”

The study was conducted in conjunction with UCLA, Stanford University, and three other such institutions and has been published in the journal Cell.