Pathway-based Genetic Studies of Autism Spectrum Disorder
University of Pennsylvania
Autism spectrum disorders have a strong genetic component, with an estimated heritability of greater than 90%, but many genes associated with autism have not yet been identified. With the success of collaborative efforts to obtain genotype data on large numbers of autism-affected and unaffected individuals, this data is now available for bioinformatics-based analyses to identify the genetic pathways involved in autism. Both rare and common genetic variants which contribute to autism are likely to have similar functions, or to interact and work together in common molecular pathways. Identifying general functions and molecular pathways of the genes involved in autism would lead to a better understanding of the underlying biology of autism, as well as potentially identifying novel genetic variants which confer risk of autism. In this study, the full spectrum of genetic variations associated with autism, both rare and common, will be analyzed in a gene function and pathway-based approach. Incorporating the known functions and interactions of the affected genes, Dr. Bucan and colleagues will identify the molecular functions and pathways that are enriched in this set of genes. Two types of genetic variation will be considered: single nucleotide polymorphisms, where one base pair of DNA is mutated, and gene copy number variants, where multiple copies of genes are inserted into the genomic DNA. Identifying the genetic pathways and functions involved in autism will increase our understanding of the underlying pathology of autism, and may lead to the identification of a more complete set of genetic factors conferring risk of autism.