We sought additional genetic evidence for the loci at which we found de novo CNVs by performing follow-up analyses of the 23 de novo CNV regions in additional cohorts and families. We performed an analysis of CNVs in SNP genotyping data from multiple case-control studies, including the Bipolar Genome Study (BiGS) and Molecular Genetics of Schizophrenia (MGS) study (see Supplemental Experimental Procedures). De novo CNV regions were tested for association with BD and SCZ using a permutation-based method described previously (Vacic et al., 2011) (see Supplemental Experimental Procedures). No significant associations were detected in bipolar disorder (Table S6A). In schizophrenia, three genomic regions were significant (Table S6B), all corresponding to CNVs that have been previously implicated in schizophrenia at 3q29 (Mulle et al., 2010), 7q36.3 (Vacic et al., 2011), and 16p11.2 (McCarthy et al., 2009).
