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.

b Department of Psychiatry Ludwig Maximilians University Munich Munich Germany

b National Fund of Scientific Research Bruxelles Belgium

Bio 10 Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders Ministry of Education Shanghai Jiao Tong University Shanghai China

c Department of Psychiatriy Charles University Faculty of Medicine and University Hospital in Hradec Králové Prague Czech Republic

c Laboratory of Experimental Neurology ULB Bruxelles Belgium

Department of Psychiatry and Psychotherapy University of Tübingen Tübingen Germany

Department of Psychiatry Harvard Medical School Boston MA USA

Department of Psychiatry Psychotherapy and Psychosomatics Martin Luther University of Halle Wittenberg Halle Germany

e Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy

e Psychosis Research Unit Aarhus University Hospital Risskov Denmark

f Fondation Fondamental Créteil France AP HP GH Saint Louis Lariboisière Fernand Widal Pôle Neurosciences Paris France

f The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark

g Equipe 1 Université Paris Diderot Paris France

g UCB Biopharma Brussels Belgium

h GRASP Research Group Department of Neuroscience University of Leuven Leuven Belgium

h Head Institute of Human Genetics University of Bonn Bonn Germany

i Department of Genomics Life and Brain Center Bonn Germany

i Department of Neurosciences University Psychiatric Center KU Leuven Leuven Belgium

j Grupo de Investigación en Psiquiatría Departamento de Psiquiatría Facultad de Medicina Universidad de Antioquia Medellín Colombia

j Social Genetic and Developmental Psychiatry Centre Institute of Psychiatry King's College London London UK

k Eli Lilly and Company Ltd Erl Wood Manor Surrey UK

k MRC Centre for Neuropsychiatric Genetics and Genomics Institute of Psychological Medicine and Clinical Neurosciences School of Medicine Cardiff University Cardiff UK

l Argentinean Association of Biological Psychiatry National University UNT Buenos Aires Argentina

l National Centre for Mental Health Cardiff University Cardiff UK

m University of Bonn Bonn Germany

m VA Boston Health Care System Brockton MA USA

o Departamento de Ciencias Celulares y Moleculares Laboratorios de Investigación y Desarrollo Facultad de Ciencias y Filosofía Universidad Peruana Cayetano Heredia Lima Peru

o Shandong Provincial Key Laboratory of Metabloic Disease The Affiliated Hospital of Qingdao University Qingdao P R China

p Institute of Social Cognitive and Behavioral Sciences Shanghai Jiao Tong University Shanghai P R China

p Neuropsychiatric Genetics Research Group Department of Psychiatry Trinity College Dublin Dublin Ireland

q Department of Psychiatry University of Aberdeen Institute of Medical Sciences Aberdeen UK

q Neurogenetics Section Centre for Addiction and Mental Health Toronto ON Canada

r Centre for Addiction and Mental Health Campbell Family Mental Health Research Institute Toronto ON Canada

r INSERM U 894 Centre Psychiatry and Neurosciences University Hospital Cochin Paris France

s Department of Psychiatry University of Toronto Toronto ON Canada

s Division of Medical Genetics Department of Biomedicine University of Basel Basel Switzerland

t Collaborative Program in Neuroscience Institute of Medical Science University of Toronto Toronto ON Canada

t Genomic Imaging Institute of Neuroscience and Medicine Research Center Juelich Juelich Germany

u Equipe Psychiatrie Translationnelle Faculté de Médecine Université Paris Est Créteil Inserm U955 Créteil France

u Laboratoire de Psychologie Medicale Centre Europe´en de Psychologie Medicale Universite´ Libre de Bruxelles and Psy Pluriel Brussels Belgium

UNI ULB Neurosciences Institute ULB Bruxelles Belgium

UR2NF Neuropsychology and Functional Neuroimaging Research Unit Centre de Recherche Cognition et Neurosciences Université Libre de Bruxelles Bruxelles Belgium

v DHU Pe Psy Pôle de Psychiatrie et d'Addictologie AP HP Hôpitaux Universitaires Henri Mondor Créteil France

w Pôle de Psychiatrie Hôpital Albert Chenevier Créteil France

x Fondation FondaMental Créteil France

y Department of Psychiatry and Psychotherapy University of Bonn Bonn Germany

z Asistencia Docencia e Investigación en Neurociencia Buenos Aires Argentina

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