In summary, whereas the primary genetic evidence from the original Scottish t(1;11) family was significant at the genome-wide significance level for both SZ and rMDD and the experimental evidence and biological plausibility of DISC1 remains strong, the evidence from subsequent linkage and candidate gene association studies is however inconsistent and not supported by genome-wide association studies or meta-analysis.12 To explore these contrasting findings, we aimed here to establish the nature and frequency of DISC1 genomic sequence variants, identify rare variants in putative functional domains, and test for effects of these on cognitive traits and the risk of psychiatric illness. We comprehensively sequenced 528 kb covering the entire DISC1 locus, including TRAX (also known as TSNAX) for which there is evidence for intergenic splicing with DISC145 and the intergenic region, which contains regulatory elements immediately 5' of DISC1.13, 46, 47, 48
