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In the Largest Autism Spectrum Disorders (ASD) Genetic Sequencing Study To Date, Researchers Identified 102 ASD-Related Genes and Report Significant Progress in Separating ASD-Associated Genes from Those Associated with Intellectual Disability and developmental delay, conditions between which there are often overlaps. The results were presented at the 2018 annual meeting of the American Society of Human Genetics in San Diego, California.
Jack Kosmicki, doctoral candidate at Harvard University; Mark J. Daly, PhD, Head of the Unit for Analytical and Translational Genetics at the Massachusetts General Hospital; and their collaborators studied 37,269 genetic samples collected from large cohorts of research from around the world.
"With nearly twice as many samples as all previous studies, we have been able to dramatically increase the number of genes studied and incorporate recent improvements in analytical methodology," said Dr. Daly. "By gathering data from several existing sources, we hope to create a resource for a definitive future analysis of genes associated with ASD."
Indeed, the larger size of the sample allowed Mr Kosmicki and his colleagues to increase the number of genes associated with ASD from 65 in 2015 to 102 today. Of these 102 genes, 47 were found to be more strongly associated with intellectual disability and developmental delay than ASDs, while 52 were more strongly associated with ASDs and three were related to both. Statistically, the genes were identified at a false discovery rate of 10%.
"Being able to examine other ASD-related disorders is important and helpful in explaining genetics at the root of the diversity of possible outcomes in ASD," Kosmicki said.
The researchers believe that these findings will contribute to improving the scientific understanding of the inheritance and biology of ASD, as well as the ability to characterize phenotypes into categories that are integral to ASD and overlap. They hope to link research findings on common and rare variant ASDs with those of larger genetic studies on intellectual disability, developmental delays, and psychiatric traits.
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