Current Neurology and Neuroscience Reports

, Volume 12, Issue 3, pp 261–266 | Cite as

Schizophrenia Genetics: Putting All the Pieces Together

  • Simon L. Girard
  • Patrick A. Dion
  • Guy A. RouleauEmail author
Genetics (V Bonifati, Section Editor)


Schizophrenia is a major mental disorder characterized by a deep disruption of the thinking process and of emotional response. For many decades, genetics studies have yielded little success in identifying genetic factors responsible for the disease. However, with the recent breakthroughs in genome analysis technologies, the field of the genetics of schizophrenia has progressed a lot in the last years. Both common and rare variants have been successfully associated with the disease and a particular emphasis has been made on rare copy number variations. Recently, a new paradigm linking de novo mutations to the genetic mechanism of schizophrenia has been unravelled. The aim of this review is to discuss the most important genetic studies made in the field to give a general perspective of where to go in the future.


Schizophrenia Genetics Genomics GWAS Genome-wide association study Sequencing Next-generation sequencing De novo CNV Copy number variation Linkage studies Psychiatric disorder Mental disorder 



Conflicts of interest: S.L. Girard: none; P.A. Dion: none; G.A. Rouleau: none.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Simon L. Girard
    • 1
  • Patrick A. Dion
    • 1
    • 2
  • Guy A. Rouleau
    • 1
    • 3
    • 4
    Email author
  1. 1.Centre of Excellence in Neuromics of Université de MontréalCentre Hospitalier de l’Université de Montréal Research CenterMontréalCanada
  2. 2.Department of Pathology and Cellular BiologyUniversité de MontréalMontréalCanada
  3. 3.Centre of Excellence in Neuromics of Université de MontréalCentre Hospitalier Universitaire Sainte-Justine Research CenterMontréalCanada
  4. 4.Faculty of Medicine, Department of MedicineUniversité de MontréalMontréalCanada

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