We found that the same set of genes, including synaptic genes (DLG2, SYNGAP1, SHANK1) and genes that encode transcriptional regulators (SETD1A, SMARCC2), are affected by both common and rare variation in SCZ. Common and rare variation in ASD also converge onto the same set of genes. MDD-associated genes overlap with genes that harbor rare de novo variation in ASD and developmental disorders (DD), suggesting that a recently reported genetic correlation between MDD and ASD GWAS43 may also apply for rare variation. ADHD-associated genes also overlap with genes with rare de novo variation in ASD, supporting the shared genetic basis of neurodevelopmental disorders. These results collectively suggest that rare and common variation may impact same biological pathways42.
