Insights From Genome-Wide Association Studies (GWAS)

During the past 15 years, impressive progress has been made in the field of human genetics, including the completion of the Human Genome Project, the description of the extent of interindividual variation in the genome, and the technological developments that lead to the introduction of genome-wide association studies (GWAS) and whole-exome and whole-genome sequencing studies. These technologies have paved the way for novel research strategies to identify the genetic factors involved in schizophrenia. To date, GWAS have identified more than 100 schizophrenia-associated loci in the genome and have enabled novel insights into the biology of this common psychiatric disorder. Many of the identified genes fall into the functional categories of synaptic function and plasticity, glutamatergic neurotransmission, neuronal calcium signaling, neurodevelopment, and immune processes. Future work will aim to further increase the sample sizes to allow the identification of the key biological processes involved. Another important step will be the functional characterization of the risk variants to gain a better understanding of the pathophysiology of schizophrenia.