To identify other variants that associate with ASDs but were not captured by the SNP genotyping array, we analysed the discovery cohorts using whole-genome imputed genotypes on autosomes generated by the MACH software (Supplementary Methods). The most significant association signals were still those in the 5p14.1 region. However, several other genomic loci, such as 10q21.3 (within CTNNA3 (catenin, alpha 3)) and 16p13.2 (between A2BP1 (ataxin 2-binding protein 1) and C16orf68 (chromosome 16 open reading frame 68)), contain imputed SNPs with suggestive association signals (Table 3). Follow-up studies with larger sample sizes are required to determine whether these represent genuine ASD susceptibility loci.
