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

Giegling I1,2, Hosak L3, Mössner R4, Serretti A5, Bellivier F6,7, Claes S8,9, Collier DA10,11, Corrales A12, DeLisi LE13,14, Gallo C15, Gill M16, Kennedy JL17,18,19,20, Leboyer M21,22,23,24, Maier W25, Marquez M26, Massat I27,28,29,30, Mors O31,32, Muglia P33, Nöthen MM34,35, Ospina-Duque J36, Owen MJ37,38, Propping P39, Shi Y40,41,42, St Clair D43, Thibaut F44, Cichon S34,35,45,46, Mendlewicz J47, O'Donovan MC37,38, Rujescu D1,2.

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Abstract

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.