Two studies of the genetics of schizophrenia provide insight into somatic comorbidities and the potential of whole-genome sequencing in schizophrenia spectrum disorders, but highlight the need for more work to translate genetic findings into clinical benefits.
This is a preview of subscription content, access via your institution
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Rent or buy this article
Prices vary by article type
Prices may be subject to local taxes which are calculated during checkout
Charlson, F. J. et al. Global epidemiology and burden of schizophrenia: findings from the Global Burden of Disease Study 2016. Schizophr. Bull. 44, 1195–1203 (2018).
Smeland, O. B., Frei, O., Dale, A. M. & Andreassen, O. A. The polygenic architecture of schizophrenia — rethinking pathogenesis and nosology. Nat. Rev. Neurol. 16, 366–379 (2020).
The Schizophrenia Working Group of the Psychiatric Genomics Consortium. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Preprint at https://www.medrxiv.org/content/10.1101/2020.09.12.20192922v1 (2020).
Singh, T., Neale, B. M. & Daly, M. J. Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia. Preprint at https://www.medrxiv.org/content/10.1101/2020.09.18.20192815v1 (2020).
Smeland, O. B. & Andreassen, O. A. Polygenic risk scores in psychiatry – large potential but still limited clinical utility. Eur. Neuropsychopharmacol. 51, 68–70 (2021).
Zhang, R. et al. Novel disease associations with schizophrenia genetic risk revealed in ~400,000 UK Biobank participants. Mol. Psychiatry https://doi.org/10.1038/s41380-021-01387-5 (2021).
Alkelai, A. et al. The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders. Mol. Psychiatry https://doi.org/10.1038/s41380-021-01383-9 (2021).
Zheutlin, A. B. et al. Penetrance and pleiotropy of polygenic risk scores for schizophrenia in 106,160 patients across four health care systems. Am. J. Psychiatry 176, 846–855 (2019).
Frei, O. et al. Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation. Nat. Commun. 10, 2417 (2019).
Mukai, J. et al. Recapitulation and reversal of schizophrenia-related phenotypes in Setd1a-deficient mice. Neuron 104, 471–487.e12 (2019).
O.A.A. is a consultant to HealthLytix and has received speaker’s honoraria from Lundbeck and Sunovion. O.B.S. declares no competing interests.
About this article
Cite this article
Smeland, O.B., Andreassen, O.A. Schizophrenia: genetic insights with clinical potential. Nat Rev Neurol 18, 129–130 (2022). https://doi.org/10.1038/s41582-021-00613-6