Dissecting the many genetic faces of schizophrenia

Abstract. Recent genome-wide association studies in schizophrenia have provided strongest evidence for association and this strengthened when the affected phenotype included bipolar disorder suggesting that genes may not always associate with operationalised diagnostic entities. Several further large Genome Wide Association (GWA) studies on schizophrenia are under way and identified and replicated further loci in well-powered cohorts. The last 2 years have also witnessed an explosion of interest in human Copy Number Variants (CNVs). Deletions recently identified in schizophrenia (1q21.1; 2p16.3; 15q11.2; 15q13.3) have also been most recently found in further neurodevelopmental diseases. Thus, a significant fraction of individuals with neurodevelopmental diseases including schizophrenia carry CNVs and many will be defined as "genomic disorders" in the coming years. These findings could represent a decisive step towards understanding the causes of this severe mental disorder as well as developing new potential treatments. There is new hope that these new avenues will help understanding the neurobiology of schizophrenia in more depth leading to the development of new innovative diagnostic tools and therapies as was the case after the discovery of rare APP and presenilin 1 and 2 mutations in Alzheimer's disease.