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Meta-analysis of Scandinavian Schizophrenia Exomes

Lescai, F.; Grove, J.; Satterstrom, F. K.; Rees, E.; Bybjerg-Grauholm, J.; Damm Als, T.; Kalinowski, J.; Halager, A.; Singh, T.; Li, Q.; Wang, J.; Walters, J. T.; Owen, M. J.; O'Donovan, M.; Nordentoft, M.; Mortensen, P. B.; Hougaard, D. M.; Werge, T.; Mors, O.; Neale, B.; Daly, M.; Boerglum, A.

2019-11-09 genetics
10.1101/836957 bioRxiv
Show 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.

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