Identifying Gene-Gene Interactions Protective Against Autism Using Contrast Mining

Many genetic variants have been linked with the development of ASD. ASD is also known to be more prevalent in males than in females. The underlying mechanism for this difference is unclear. The polygenic nature of the genetic component of ASD makes studying potential mechanisms difficult if the significance of variants is assessed independently, as their effects may interact. Most research has focused on the pathogenic effect of certain genetic variants. However, genetic variants associated with a reduced risk of developing ASD also exist and may provide new clues regarding the mechanism for the difference in ASD between sexes. We identify patterns of genetic variants associated with reduced risk of developing ASD. From these patterns, we identify possible relationships between the genes which appear together frequently in patterns with high significance in both males and females separately. We then compare these relationships to assess how they vary between males and females.