Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.


Schizophrenia: genetic insights with clinical potential

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 options

Rent or buy this article

Prices vary by article type



Prices may be subject to local taxes which are calculated during checkout


  1. 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).

    Article  Google Scholar 

  2. 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).

    Article  Google Scholar 

  3. The Schizophrenia Working Group of the Psychiatric Genomics Consortium. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Preprint at (2020).

  4. 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 (2020).

  5. Smeland, O. B. & Andreassen, O. A. Polygenic risk scores in psychiatry – large potential but still limited clinical utility. Eur. Neuropsychopharmacol. 51, 68–70 (2021).

    Article  CAS  Google Scholar 

  6. Zhang, R. et al. Novel disease associations with schizophrenia genetic risk revealed in ~400,000 UK Biobank participants. Mol. Psychiatry (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  7. Alkelai, A. et al. The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders. Mol. Psychiatry (2021).

    Article  PubMed  Google Scholar 

  8. 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).

    Article  Google Scholar 

  9. Frei, O. et al. Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation. Nat. Commun. 10, 2417 (2019).

    Article  Google Scholar 

  10. Mukai, J. et al. Recapitulation and reversal of schizophrenia-related phenotypes in Setd1a-deficient mice. Neuron 104, 471–487.e12 (2019).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding author

Correspondence to Ole A. Andreassen.

Ethics declarations

Competing interests

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.

Rights and permissions

Reprints and Permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Smeland, O.B., Andreassen, O.A. Schizophrenia: genetic insights with clinical potential. Nat Rev Neurol 18, 129–130 (2022).

Download citation

  • Published:

  • Issue Date:

  • DOI:


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing