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72 Genes With Very Strong Autism Associations Identified in Large-Scale Analysis
A genetic analysis of more than 150,000 people has identified 72 genes very strongly associated with autism and more than 250 others with strong autism associations. Researchers published their findings online ahead of print in Nature Genetics.
“We know that many genes, when mutated, contribute to autism, and in this unprecedented study, 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,” said co-senior author Joseph D. Buxbaum, PhD, director, Seaver Autism Center for Research and Treatment at Mount Sinai, New York, New York. “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.”
The findings stem from a collaboration involving numerous scientists and autism datasets to conduct a large-scale genetic analysis of autism and more broadly defined neurodevelopmental conditions.
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According to the study, genes predominantly associated with developmental delay tend to be active in early neuronal development, while genes associated with autism usually play a role in more mature neurons.
“De novo protein-truncating variants, damaging missense variants, and copy number variants represented 57.5%, 21.1% and 8.44% of association evidence,” researchers reported, “while copy number variants conferred greatest relative risk.”
Meanwhile, an analysis of more than 20,000 samples from people with schizophrenia found that genes strongly associated with autism were also more likely to be associated with genes that increase schizophrenia risk.
“These analyses indicate,” Dr Buxbaum explained, “that there are shared genetic risk factors between autism and other neurological and psychiatric disorders.”
Dr Buxbaum said the findings support a precision medicine approach for patients with autism because treatments for those carrying a mutation in one gene may not work in others carrying a mutation in a different gene.
“A critical takeaway is that autism has many genetic mutations driving it, and thus genetic testing is warranted, not just for the benefit of families and individuals at risk for autism spectrum disorder, but also to drive development of therapeutics,” he said. “The more we can advance therapeutics, based on the targets identified in these genetic findings, the more people we have the potential to help, which could have a significant impact in addressing autism and developmental delay worldwide.”
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