Competitive gene based tests were performed for FOXP2 target genes, highly constrained genes, and for all Gene Ontology terms86 from MsigDB 6.087 using MAGMA88 (Online Methods). Association results for individual genes are consistent with the genome-wide significant loci for the GWAS (Supplementary Table 8), however four new genes passed the threshold for exome-wide significant association (Supplementary Figure 15a–d). Three independent sets of FOXP2 downstream target genes89,90 were tested (Online Methods), none of which demonstrated significant association to ADHD (Supplementary Table 9). The lack of association may be caused by unknown functions of FOXP2 driving ADHD risk, insufficient power to detect relevant downstream genes, or because only a small subset of biological functions regulated by FOXP2 are relevant to ADHD pathogenesis.
