Genetic risk shared between autism and schizophrenia

Prior research demonstrating phenotypic and genotypic overlap between schizophrenia and autism (rg = 0.14, Bulik-Sullivan et al., 2015, Archives Gen Psychiatry) has contributed to an increasing awareness of shared etiology for... [ view full abstract ]

Prior research demonstrating phenotypic and genotypic overlap between schizophrenia and autism (rg = 0.14, Bulik-Sullivan et al., 2015, Archives Gen Psychiatry) has contributed to an increasing awareness of shared etiology for these disorders (Craddock & Owen, 2010, British J Psychiatry). We applied the Cross Phenotype Association (CPASSOC) R package (Zhu et al., 2015, Am J Human Genet) to summary statistics from the Psychiatric Genomics Consortium (Schizophrenia Working Group, 2014, Nature; Cross-disorder Group, 2013, Lancet) to identify independent SNPs significantly associated with both disorders, as well as implicated genes and pathways. These findings have implications for shared etiology in schizophrenia and autism and may suggest potential alternative classifications for subtypes of each. More broadly, this study also builds upon previous efforts to examine the feasibility of cross-phenotype meta-analysis for maximizing GWAS sample size for complex or uncommon outcomes.