Abstract
Rare genetic variants may play a prominent role in schizophrenia. We report on the to date largest whole exome sequencing study of schizophrenia case-control samples from related populations and combine with other available sequence data, analysing in total 34,084 individuals (14,302 cases). Three genes showed significant association at FDR < 0.10 (SETD1A, TAF13 and MKI67) and gene-set analyses highlighted the involvement of the synaptome and excitatory neurons, and demonstrated shared architecture with high-functioning autism.
Footnotes
↵1 The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders. (2018). The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders., 23(1), 6–14. http://doi.org/10.1038/mp.2017.196
↵2 Mors, O., Perto, G. P., & Mortensen, P. B. (2011). The Danish Psychiatric Central Research Register:. Scandinavian Journal of Public Health. http://doi.org/10.1177/1403494810395825
