Researchers have identified multiple genes that are linked with autism, 70 of them for the first time, in a study that analysed the genomes of over 150,000 people. The gene analysis – the largest of its kind – sheds new light on understanding the role of genes in autism spectrum disorder that affects millions of people globally.
The sample included 20,000 genomes of people with autism.
The study found that 70 genes linked to neurodevelopmental disorders like ADHD, and learning disabilities were also strongly linked with autism. Another 250 genes were identified with strong genetic links to autism.
The research also showed that people with autism spectrum disorder have altered genes, a rarity in the general population.
“This is just the first discovery step,” said co-first author and Broad Institute associate member Harrison Brand, an assistant professor in neurology at Massachusetts General Hospital and Harvard Medical School in a statement. “Now that we have this list of high-confidence genes, we can take it to the functional modelling stage to explore the biological mechanisms that underlie the features of autism.”
The study discovered that genes linked predominantly with developmental delay tend to be active in early neuronal development, whereas autism-related genes tend to play a role in more developed neurons, overlapping with genes associated with neuropsychiatric disorders like schizophrenia. The study will help researchers look at the impact of the genetic variations in neurodevelopment in a human.
“We know that many genes, when mutated, contribute to autism. We were able to bring together multiple types of mutations in a wide array of samples to get a much richer sense of the genes and genetic architecture involved in autism and other neurodevelopmental conditions,” co-senior author Joseph D. Buxbaum from the Seaver Autism Center for Research and Treatment, Mount Sinai said in a statement.
“This is significant in that we now have more insights as to the biology of the brain changes that underlie autism and more potential targets for treatment,” added Buxbaum.
The study, published in the journal Nature Genetics, was conducted by a cohort of researchers from the Autism Sequencing Consortium, the Lundbeck Foundation Institute for Integrative Psychiatric Research, the Population-Based Autism Genetics and Environmental Study, and the Center for Common Disease Genomics at the Broad Institute of the Massachusetts Institute of Technology and Harvard University.
The study was published along with three different studies sharing the same datasets.