Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics

Ina Giegling, Ladislav Hosak, Rainald Mössner, Alessandro Serretti, Frank Bellivier, Stephan Claes, David A. Collier, Alejo Corrales, Lynn E. DeLisi, Carla Gallo, Michael Gill, James L. Kennedy, Marion Leboyer, Wolfgang Maier, Miguel Marquez, Isabelle Massat, Ole Mors, Pierandrea Muglia, Markus M. Nöthen, Jorge Ospina-DuqueMichael J. Owen, Peter Propping, Yong Yong Shi, David St Clair, Florence Thibaut, Sven Cichon, Julien Mendlewicz, Michael C. O'Donovan, Dan Rujescu*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

47 Citations (Scopus)


Objectives: Schizophrenia is a severe psychiatric disease affecting about 1% of the general population. The relative contribution of genetic factors has been estimated to be up to 80%. The mode of inheritance is complex, non-Mendelian, and in most cases involving the combined action of large numbers of genes. 

Methods: This review summarises recent efforts to identify genetic variants associated with schizophrenia detected, e.g., through genome-wide association studies, studies on copy-number variants or next-generation sequencing. 

Results: A large, new body of evidence on genetics of schizophrenia has accumulated over recent years. Many new robustly associated genetic loci have been detected. Furthermore, there is consensus that at least a dozen microdeletions and microduplications contribute to the disease. Genetic overlap between schizophrenia, other psychiatric disorders, and neurodevelopmental syndromes raised new questions regarding the current classification of psychiatric and neurodevelopmental diseases. 

Conclusions: Future studies will address especially the functional characterisation of genetic variants. This will hopefully open the doors to our understanding of the pathophysiology of schizophrenia and other related diseases. Complementary, integrated systems biology approaches to genomics, transcriptomics, proteomics and metabolomics may also play crucial roles in enabling a precision medicine approach to the treatment of individual patients.

Original languageEnglish
Pages (from-to)492-505
Number of pages14
JournalWorld Journal of Biological Psychiatry
Issue number7
Early online date23 Jan 2017
Publication statusPublished - 2017


  • genetic
  • Genetics
  • genome
  • polygenic
  • psychiatry
  • psychosis
  • schizophrenia
  • sequencing


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