2. Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts, USA.
3. Harvard Medical School, Boston, Massachusetts, USA.
4. Department of Mechanical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
5. Children's Hospital, Boston, Massachusetts, USA.
Introduction: Autism spectrum disorder or ASD was studied via copy number variations or CNVs and via windows straddling LoGS loci. We found strong concordance between our prior findings relating to development. Further, alcohol pathways were discovered.
Methods: CNVs previously described in autism were studied and use of pathway overlaps in deducing mechanism is described.
Results: CNVs related to autism were split into those falling within LoGS loci windows and those outside. Those inside related to immune function while those outside to alcohol pathways. Further, the enrichment of genes within windows centered on the loci showed mechanistic insights into autism.
Discussion: Our analysis provides a mechanistic framework to define detailed mechanisms underlying autism. The found ethanol/ alcohol pathways rank topmost in the analysis conducted and provide another mechanistic insight into autism. Further the CNVs that contain such alcohol dehydrogenase or detoxifying genes show a loss in copy number as we would predict because alcohol has been known to affect the developing brain.
Keywords: Autism spectrum disorder, alcohol, immune, cation, development